https://biorxiv.org This feed contains articles for bioRxiv Channel "UK Biobank" bioRxiv https://biorxiv.org https://biorxiv.org/cgi/content/short/031120v1?rss=1" Saskia P Hagenaars Sarah E Harris Gail Davies William David Hill David CM Liewald Stuart J Ritchie Riccardo E Marioni Chloe Fawns-Ritchie Breda Cullen Rainer Malik METASTROKE consortium International Consortium for Blood Pressure GWAS SpiroMeta consortium CHARGE consortium Pulmonary Group CHARGE consortium Aging and Longevity Group Bradford B Worrall Cathie LM Sudlow Joanna M Wardlaw John Gallacher Jill Pell Andrew M McIntosh Daniel J Smith Catharine R Gale Ian J Deary 2015-11-10 doi:10.1101/031120 Cold Spring Harbor Laboratory Press 2015-11-10 https://biorxiv.org/cgi/content/short/031138v1?rss=1" Catharine Gale Saskia P Hagenaars Gail Davies W David Hill David CM Liewald Breda Cullen International Consortium for Blood Pressure GWAS CHARGE consortium Aging and Longevity Group Jill Pell Andrew M McIntosh Daniel J Smith Ian J Deary Sarah Harris 2015-11-10 doi:10.1101/031138 Cold Spring Harbor Laboratory Press 2015-11-10 https://biorxiv.org/cgi/content/short/039545v1?rss=1" Lauren B Navrady Stuart J Ritchie Stella WY Chan Daniel M Kerr Mark J Adams Emma Hawkins David J Porteous Ian J Deary Catherine R Gale David G Batty Andrew M McIntosh 2016-02-12 doi:10.1101/039545 Cold Spring Harbor Laboratory Press 2016-02-12 https://biorxiv.org/cgi/content/short/080283v1?rss=1" Lianne M Reus Xueyi Shen Jude Gibson Ella Wigmore Lannie Ligthart Mark J Adams Gail Davies Simon R Cox Saskia P Hagenaars Mark E Bastin Ian J Deary Heather C Whalley Andrew M McIntosh 2016-10-12 doi:10.1101/080283 Cold Spring Harbor Laboratory Press 2016-10-12 https://biorxiv.org/cgi/content/short/059352v1?rss=1" Eleanor M Wigmore Toni-Kim Clarke Mark J Adams Ana M Fernandez-Pujals Jude Gibson Gail Davies Lynsey S Hall Yanni Zeng Philippa A Thomson Caroline Hayward Blair H Smith Lynne J Hocking Sandosh Padmanabhan Ian J Deary David J Porteous Kristin K Nicodemus Andrew M McIntosh 2016-06-16 doi:10.1101/059352 Cold Spring Harbor Laboratory Press 2016-06-16 https://biorxiv.org/cgi/content/short/032417v1?rss=1" Daniel J Smith Valentina Escott-Price Gail Davies Mark ES Bailey Lucia Colodro Conde Joey Ward Alexey Vedernikov Riccardo Marioni Breda Cullen Donald Lyall Saskia P Hagenaars David CM Liewald Michelle Luciano Catharine R Gale Stuart J Ritchie Caroline Hayward Barbara Nicholl Brendan Bulik-Sullivan Mark Adams Baptiste Couvy-Duchesne Nicholas Graham Daniel Mackay Jonathan Evans Blair H Smith David J Porteous Sarah Medland Nick Martin Peter Holmans Andrew M McIntosh Jill P Pell Ian J Deary Michael O'Donovan 2015-11-20 doi:10.1101/032417 Cold Spring Harbor Laboratory Press 2015-11-20 https://biorxiv.org/cgi/content/short/043000v1?rss=1" William David Hill Saskia P Hagenaars Riccardo E Marioni Sarah E Harris David CM Liewald Gail Davies International Consortium for Blood Pressure Andrew M McIntosh Catharine R Gale Ian J Deary 2016-03-09 doi:10.1101/043000 Cold Spring Harbor Laboratory Press 2016-03-09 https://biorxiv.org/cgi/content/short/051771v1?rss=1" Simon R Cox Stuart J Ritchie Elliot M Tucker-Drob David C Liewald Saskia P Hagenaars Gail Davies Joanna M Wardlaw Catharine R Gale Mark E Bastin Ian J Deary 2016-05-04 doi:10.1101/051771 Cold Spring Harbor Laboratory Press 2016-05-04 https://biorxiv.org/cgi/content/short/028001v1?rss=1" T; MAF 0.16) was associated with longer menstrual cycles (0.16 s.d. (approx. 1 day) per minor allele; 95% CI 0.12-0.20; P=6x10-16), later age at menopause (0.13 years per minor allele; 95% CI 0.04-0.22; P=5.7x10-3), greater female nulliparity (OR=1.06; 95% CI 1.02-1.11; P=4.8x10-3) and lower risk of endometriosis (OR=0.79; 95% CI 0.69-0.90; P=4.1x10-4). The FSH-lowering T allele was not associated more generally with other reproductive illnesses or conditions and we did not replicate associations with male infertility or PCOS.nnLimitations, reasons for caution: The data included might be affected by recall bias. Women with a cycle length recorded were aged over 40 and were approaching menopause, however we did not find evidence that this affected the results. Many of the illnesses had relatively small sample sizes and so we may have been under-powered to detect an effect.nnWider implications of the findings: We found a strong novel association between a genetic variant that lowers FSH levels and longer menstrual cycles, at a locus previously robustly associated with age at menopause. The variant was also associated with nulliparity and endometriosis risk. We conclude that lifetime differences in circulating levels of FSH between individuals can influence menstrual cycle length and a range of reproductive outcomes, including menopause timing, infertility, endometriosis and PCOS. ]]> Katherine S Ruth Robin N Beaumont Jessica Tyrrell Samuel E Jones Marcus A Tuke Hanieh Yaghootkar Andrew R Wood Rachel M Freathy Michael N Weedon Timothy M Frayling Anna Murray 2015-10-01 doi:10.1101/028001 Cold Spring Harbor Laboratory Press 2015-10-01 https://biorxiv.org/cgi/content/short/008755v1?rss=1" 10,000 samples, LTMLM was correctly calibrated and attained a 4.1% improvement (P = 0.007) in chi-square statistics (vs. existing mixed model methods) at 75 known associated SNPs, consistent with simulations. Larger increases in power are expected at larger sample sizes. In conclusion, an increase in power over existing mixed model methods is available for ascertained case-control studies of diseases with low prevalence. ]]> tristan hayeck Noah Zaitlen Po-Ru Loh Bjarni Vilhjalmsson Samuela Pollack Alexander Gusev Jian Yang Guo-Bo Chen Michael E. Goddard Peter M. Visscher Nick Patterson Alkes Price 2014-09-04 doi:10.1101/008755 Cold Spring Harbor Laboratory Press 2014-09-04 https://biorxiv.org/cgi/content/short/070912v1?rss=1" Xueyi Shen Lianne Reus Mark Adams Simon Cox Ian Deary David Liewald Mark Bastin Daniel Smith Heather Whalley Andrew McIntosh 2016-08-22 doi:10.1101/070912 Cold Spring Harbor Laboratory Press 2016-08-22 https://biorxiv.org/cgi/content/short/055855v1?rss=1" Kevin Galinsky Po-Ru Loh Swapan Mallick Nick J Patterson Alkes L Price 2016-05-27 doi:10.1101/055855 Cold Spring Harbor Laboratory Press 2016-05-27 https://biorxiv.org/cgi/content/short/028282v1?rss=1" 4cM) identical-by-descent (IBD) tracts shared among distantly related individuals. We applied Eagle to N=150K samples (0.2% of the British population) from the UK Biobank, and we determined that it is 1-2 orders of magnitude faster than existing methods while achieving similar or better phasing accuracy (switch error rate {approx}0.3%, corresponding to perfect phase in most 10Mb segments). We also observed that when used within an imputation pipeline, Eagle pre-phasing improved downstream imputation accuracy compared to pre-phasing in batches using existing methods (as necessary to achieve comparable computational cost). ]]> Po-Ru Loh Pier Francesco Palamara Alkes L Price 2015-10-04 doi:10.1101/028282 Cold Spring Harbor Laboratory Press 2015-10-04 https://biorxiv.org/cgi/content/short/054973v1?rss=1" Heather C Whalley Mark J Adams Lynsey Hall Toni-Kim Clarke Ana Maria Fernandez-Pujals Jude Gibson Ella Wigmore Jonathan Hafferty Saskia P Hagenaars Gail Davies Archie Campbell Caroline Hayward Stephen M Lawrie David Porteous Ian Deary Andrew M McIntosh 2016-05-24 doi:10.1101/054973 Cold Spring Harbor Laboratory Press 2016-05-24 https://biorxiv.org/cgi/content/short/037457v1?rss=1" Andrew M McIntosh Lynsey S Hall Yanni Zeng Mark James Adams Jude Gibson Ella Wigmore Maria Pujils-Fernandez Archie I Campbell Toni-Kim Clarke Caroline Hayward Christopher Haley David Porteous Ian Deary Daniel Smith Barbara Nicholl David A Hinds Amy V Jones Serena Scollen Weihua Meng Blair Smith Lynne J Hocking 2016-01-21 doi:10.1101/037457 Cold Spring Harbor Laboratory Press 2016-01-21 https://biorxiv.org/cgi/content/short/038430v1?rss=1" Luke C Pilling Janice L Atkins Kirsty Bowman Samuel E Jones Jessica Tyrrell Robin N Beaumont Katherine S Ruth Marcus A Tuke Hanieh Yaghootkar Andrew R Wood Rachel M Freathy Anna Murray Michael N Weedon Luting Xue Kathryn Lunetta Joanne M Murabito Lorna W Harries Jean-Marie Robine Carol Brayne George A Kuchel Luigi Ferrucci Timothy M Frayling David Melzer 2016-02-01 doi:10.1101/038430 Cold Spring Harbor Laboratory Press 2016-02-01 https://biorxiv.org/cgi/content/short/031369v1?rss=1" Samuel E Jones Jessica Tyrrell Andrew R Wood Robin N Beaumont Katherine S Ruth Marcus A Tuke Hanieh Yaghootkar Youna Hu Maris Teder-Laving Caroline Hayward Till Roenneberg James F Wilson Fabiola Del Greco Andrew A Hicks Chol Shin Chang-Ho Yun Seung Ku Lee Andres Metspalu Enda M Byrne Philip R Gehrman Henning Tiemeier Karla V Allebrandt Rachel M Freathy Anna Murray David A Hinds Timothy M Frayling Michael N Weedon 2016-02-02 doi:10.1101/031369 Cold Spring Harbor Laboratory Press 2016-02-02 https://biorxiv.org/cgi/content/short/047290v1?rss=1" Vincent Deary Saskia P Hagenaars Sarah E Harris W David Hill Gail Davies David CM Liewald International Consortium for Blood Pressure GWAS CHARGE consortium Aging and Longevity Group Andrew M McIntosh Catharine R Gale Ian J Deary 2016-04-05 doi:10.1101/047290 Cold Spring Harbor Laboratory Press 2016-04-05 https://biorxiv.org/cgi/content/short/045831v1?rss=1" Jimmy Z Liu Yaniv Erlich Joseph K Pickrell 2016-03-25 doi:10.1101/045831 Cold Spring Harbor Laboratory Press 2016-03-25 https://biorxiv.org/cgi/content/short/029504v1?rss=1" Sarah E Harris Saskia P Hagenaars Gail Davies William David Hill David CM Liewald Stuart J Ritchie Riccardo E Marioni METASTROKE consortium International Consortium for Blood Pressure CHARGE consortium Aging and Longevity Group CHARGE consortium Cognitive Group Cathie LM Sudlow Joanna M Wardlaw Andrew M McIntosh Catharine R Gale Ian J Deary 2015-10-20 doi:10.1101/029504 Cold Spring Harbor Laboratory Press 2015-10-20 https://biorxiv.org/cgi/content/short/218388v1?rss=1" 400,000 participants from UK Biobank, the score conforms to a normal distribution and those in the top 2.5% of the distribution are at 4-fold increased risk compared to the remaining 97.5%. Similar patterns are observed with genome-wide polygenic scores for two additional diseases - breast cancer and severe obesity.nnOne Sentence SummaryA genome-wide polygenic score identifies 2.5% of the population born with a 4-fold increased risk for coronary artery disease. ]]> Khera, A. V. Chaffin, M. Aragam, K. Emdin, C. A. Klarin, D. Haas, M. Roselli, C. Natarajan, P. Kathiresan, S. 2017-11-15 doi:10.1101/218388 Cold Spring Harbor Laboratory Press 2017-11-15 https://biorxiv.org/cgi/content/short/219345v1?rss=1" Hagenaars, S. Radakovic, R. Crockford, C. Fawns-Ritchie, C. International FTD-Genomics Consortium, Harris, S. E. Gale, C. R. Deary, I. J. 2017-11-14 doi:10.1101/219345 Cold Spring Harbor Laboratory Press 2017-11-14 https://biorxiv.org/cgi/content/short/176834v1?rss=1" Canela-Xandri, O. Rawlik, K. Tenesa, A. 2017-08-16 doi:10.1101/176834 Cold Spring Harbor Laboratory Press 2017-08-16 https://biorxiv.org/cgi/content/short/107037v1?rss=1" Bjorngaard, J. Nordestgaard, A. Taylor, A. Treur, J. Gabrielsen, M. Munafo, M. R. Nordestgaard, B. Asvold, B. Romundstad, P. Davey Smith, G. 2017-02-08 doi:10.1101/107037 Cold Spring Harbor Laboratory Press 2017-02-08 https://biorxiv.org/cgi/content/short/230524v1?rss=1" Lyall, D. M. Cox, S. R. Lyall, L. M. Celis-Morales, C. Cullen, B. Mackay, D. F. Ward, J. Strawbridge, R. J. McIntosh, A. M. Sattar, N. Smith, D. J. Cavanagh, J. Deary, I. J. Pell, J. P. 2017-12-08 doi:10.1101/230524 Cold Spring Harbor Laboratory Press 2017-12-08 https://biorxiv.org/cgi/content/short/103119v1?rss=1" 0.6), general cognitive function (rg > 0.6), processing speed (rg > 0.7), and memory (rg > 0.3). Polygenic profile analysis indicated considerable shared genetic aetiology between trail making, general cognitive function, processing speed, and memory (standardized {beta} between 0.03 and 0.08). These results suggest that trail making is both phenotypically and genetically strongly associated with general cognitive function and processing speed. ]]> Hagenaars, S. Cox, S. R. Hill, W. D. Davies, G. Liewald, D. C. CHARGE consortium Cognitive Working Group, Harris, S. E. McIntosh, A. M. Gale, C. R. Deary, I. 2017-01-25 doi:10.1101/103119 Cold Spring Harbor Laboratory Press 2017-01-25 https://biorxiv.org/cgi/content/short/168906v1?rss=1" Luciano, M. Hagenaars, S. P. Davies, G. Hill, W. D. Clarke, T.-K. Shirali, M. Marioni, R. Harris, S. E. Liewald, D. C. Fawns-Ritchie, C. Adams, M. J. Howard, D. M. Lewis, C. M. Gale, C. R. McIntosh, A. M. Deary, I. J. 2017-07-28 doi:10.1101/168906 Cold Spring Harbor Laboratory Press 2017-07-28 https://biorxiv.org/cgi/content/short/194076v1?rss=1" Ni, G. Gratten, J. Schizophrenia Working Group of the Psychiatric Gen, Wray, N. R. Lee, S. H. 2017-09-27 doi:10.1101/194076 Cold Spring Harbor Laboratory Press 2017-09-27 https://biorxiv.org/cgi/content/short/222265v1?rss=1" Kichaev, G. Bhatia, G. Loh, P.-R. Gazal, S. Burch, K. Freund, M. Scoech, A. Pasaniuc, B. Price, A. 2017-11-20 doi:10.1101/222265 Cold Spring Harbor Laboratory Press 2017-11-20 https://biorxiv.org/cgi/content/short/214700v1?rss=1" Frayling, T. M. Beaumont, R. Jones, S. E. Yaghootkar, H. Tuke, M. A. Ruth, K. S. Casanova, F. West, B. Locke, J. Sharp, S. Jie, Y. Thompson, W. D. Harrison, J. W. Lindgren, C. M. Grarup, N. Murray, A. Freathy, R. M. Weedon, M. N. Tyrrell, J. Wood, A. R. 2017-11-06 doi:10.1101/214700 Cold Spring Harbor Laboratory Press 2017-11-06 https://biorxiv.org/cgi/content/short/203844v1?rss=1" Purves, K. L. Coleman, J. R. I. Rayner, C. Hettema, J. M. Deckert, J. McIntosh, A. M. Nicodemus, K. K. Breen, G. Eley, T. C. 2017-10-16 doi:10.1101/203844 Cold Spring Harbor Laboratory Press 2017-10-16 https://biorxiv.org/cgi/content/short/028035v1?rss=1" Felix Day Robert Scott Ken Ong John Perry 2015-10-01 doi:10.1101/028035 Cold Spring Harbor Laboratory Press 2015-10-01 https://biorxiv.org/cgi/content/short/084798v1?rss=1" Hagenaars, S. Gale, C. R. Deary, I. J. Harris, S. E. 2016-11-01 doi:10.1101/084798 Cold Spring Harbor Laboratory Press 2016-11-01 https://biorxiv.org/cgi/content/short/096214v1?rss=1" Taylor, A. E. Munafo, M. R. 2016-12-22 doi:10.1101/096214 Cold Spring Harbor Laboratory Press 2016-12-22 https://biorxiv.org/cgi/content/short/177014v1?rss=1" Strawbridge, R. J. Ward, J. Cullen, B. Tunbridge, E. M. Hartz, S. Bierut, L. Horton, A. Bailey, M. E. S. Graham, N. Ferguson, A. Lyall, D. M. Mackay, D. Pidgeon, L. M. Cavanagh, J. Pell, J. P. O'Donovan, M. Escott-Price, V. Harrison, P. J. Smith, D. J. 2017-08-16 doi:10.1101/177014 Cold Spring Harbor Laboratory Press 2017-08-16 https://biorxiv.org/cgi/content/short/117796v1?rss=1" Ward, J. Strawbridge, R. Graham, N. Bailey, M. Freguson, A. Lyall, D. Cullen, B. Pidegon, L. Cavanagh, J. Mackay, D. Pell, J. O'Donovan, M. Escott-Price, V. Smith, D. J. 2017-03-17 doi:10.1101/117796 Cold Spring Harbor Laboratory Press 2017-03-17 https://biorxiv.org/cgi/content/short/185207v1?rss=1" Rawlik, K. Canela-Xandri, O. Tenesa, A. 2017-09-07 doi:10.1101/185207 Cold Spring Harbor Laboratory Press 2017-09-07 https://biorxiv.org/cgi/content/short/168732v1?rss=1" Howard, D. M. Adams, M. J. Shirali, M. Clarke, T.-K. Marioni, R. E. Davies, G. Coleman, J. R. I. Alloza, C. Shen, X. Barbu, M. C. Wigmore, E. M. Hagenaars, S. Lewis, C. M. Smith, D. J. Sullivan, P. F. Haley, C. S. Breen, G. Deary, I. J. McIntosh, A. M. 2017-07-27 doi:10.1101/168732 Cold Spring Harbor Laboratory Press 2017-07-27 https://biorxiv.org/cgi/content/short/033134v1?rss=1" Oriol Canela-Xandri Konrad Rawlik John A. Woolliams Albert Tenesa 2015-12-01 doi:10.1101/033134 Cold Spring Harbor Laboratory Press 2015-12-01 https://biorxiv.org/cgi/content/short/236182v1?rss=1" Millard, L. A. C. Davies, N. M. Tilling, K. Gaunt, T. R. Davey Smith, G. 2017-12-19 doi:10.1101/236182 Cold Spring Harbor Laboratory Press 2017-12-19 https://biorxiv.org/cgi/content/short/158113v1?rss=1" Hanscombe, K. B. Coleman, J. R. I. Traylor, M. Lewis, C. M. 2017-06-30 doi:10.1101/158113 Cold Spring Harbor Laboratory Press 2017-06-30 https://biorxiv.org/cgi/content/short/146787v1?rss=1" Hill, W. D. Weiss, A. McIntosh, A. M. Gale, C. R. Deary, I. J. 2017-06-06 doi:10.1101/146787 Cold Spring Harbor Laboratory Press 2017-06-06 https://biorxiv.org/cgi/content/short/027490v1?rss=1" Andrew R Wood Jessica Tyrell Robin Beaumont Samuel E Jones Marcus A Tuke Katherine S Ruth The GIANT consortium Hanieh Yaghootkar Rachel Freathy Anna Murray Timothy M Frayling Michael N Weedon 2015-09-24 doi:10.1101/027490 Cold Spring Harbor Laboratory Press 2015-09-24 https://biorxiv.org/cgi/content/short/172247v1?rss=1" Mountjoy, E. J. Davies, N. M. Plotnikov, D. Davey Smith, G. Rodriguez, S. Williams, C. Guggenheim, J. A. Atan, D. 2017-08-04 doi:10.1101/172247 Cold Spring Harbor Laboratory Press 2017-08-04 https://biorxiv.org/cgi/content/short/068643v1?rss=1" David M Howard Lynsey S Hall Jonathan D Hafferty Yanni Zeng Mark J Adams Toni-Kim Clarke David J Porteous Caroline Hayward Blair H Smith Alison D Murray Niamh M Ryan Kathryn L Evans Chris S Haley Ian J Deary Pippa A Thomson Andrew M McIntosh 2016-08-22 doi:10.1101/068643 Cold Spring Harbor Laboratory Press 2016-08-22 https://biorxiv.org/cgi/content/short/217786v1?rss=1" Meng, W. Adams, M. Hebert, H. Deary, I. McIntosh, A. Smith, B. 2017-11-10 doi:10.1101/217786 Cold Spring Harbor Laboratory Press 2017-11-10 https://biorxiv.org/cgi/content/short/212357v1?rss=1" 1400 binary phenotypes, we show that SAIGE can efficiently analyze large sample data, controlling for unbalanced case-control ratios and sample relatedness. ]]> Zhou, W. Nielsen, J. B. Fritsche, L. G. Dey, R. Elvestad, M. B. Wolford, B. B. LeFaive, J. Lin, M. Hveem, K. Kang, H. M. Abecasis, G. R. Willer, C. J. Lee, S. 2017-11-01 doi:10.1101/212357 Cold Spring Harbor Laboratory Press 2017-11-01 https://biorxiv.org/cgi/content/short/105122v1?rss=1" Cortes, A. Dendrou, C. Motyer, A. Jostins, L. Vukcevic, D. Dilthey, A. Donnelly, P. Leslie, S. Fugger, L. McVean, G. 2017-02-01 doi:10.1101/105122 Cold Spring Harbor Laboratory Press 2017-02-01 https://biorxiv.org/cgi/content/short/160044v1?rss=1" Warrington, N. Freathy, R. Neale, M. C. Evans, D. M. 2017-07-06 doi:10.1101/160044 Cold Spring Harbor Laboratory Press 2017-07-06 https://biorxiv.org/cgi/content/short/177659v1?rss=1" Tuke, M. A. Ruth, K. S. Wood, A. R. Beaumont, R. N. Tyrrell, J. Jones, S. E. Yaghootkar, H. Turner, C. L. S. Donohoe, M. E. Brooke, A. M. Collinson, M. N. Freathy, R. M. Weedon, M. N. Frayling, T. M. Murray, A. 2017-08-18 doi:10.1101/177659 Cold Spring Harbor Laboratory Press 2017-08-18 https://biorxiv.org/cgi/content/short/183483v1?rss=1" Lindholm, D. Fukaya, E. Leeper, N. J. Ingelsson, E. 2017-09-04 doi:10.1101/183483 Cold Spring Harbor Laboratory Press 2017-09-04 https://biorxiv.org/cgi/content/short/179762v1?rss=1" DeBoever, C. Tanigawa, Y. McInnes, G. Lavertu, A. Chang, C. Bustamante, C. D. Daly, M. J. Rivas, M. A. 2017-08-23 doi:10.1101/179762 Cold Spring Harbor Laboratory Press 2017-08-23 https://biorxiv.org/cgi/content/short/130385v1?rss=1" Alfaro-Almagro, F. Jenkinson, M. Bangerter, N. K. Andersson, J. L. Griffanti, L. Douaud, G. Sotiropoulos, S. Jbabdi, S. Hernandez Fernandez, M. Vallee, E. Vidaurre, D. Webster, M. McCarthy, P. D. Rorden, C. Daducci, A. Alexander, D. Zhang, H. Dragonu, I. Matthews, P. Miller, K. L. Smith, S. M. 2017-04-24 doi:10.1101/130385 Cold Spring Harbor Laboratory Press 2017-04-24 https://biorxiv.org/cgi/content/short/085969v1?rss=1" Mostafavi, H. Berisa, T. Przeworski, M. Pickrell, J. K. 2016-11-07 doi:10.1101/085969 Cold Spring Harbor Laboratory Press 2016-11-07 https://biorxiv.org/cgi/content/short/052308v1?rss=1" 2x the accuracy of 1000 Genomes-based phasing. Eagle2 is open source and freely available for HRC-based phasing via the Sanger Imputation Service and the Michigan Imputation Server. ]]> Po-Ru Loh Petr Danecek Pier Francesco Palamara Christian Fuchsberger Yakir A Reshef Hilary K Finucane Sebastian Schoenherr Lukas Forer Shane McCarthy Goncalo R Abecasis Richard Durbin Alkes L Price 2016-05-10 doi:10.1101/052308 Cold Spring Harbor Laboratory Press 2016-05-10 https://biorxiv.org/cgi/content/short/128330v1?rss=1" Pilling, L. C. Atkins, J. L. Duff, M. O. Beaumont, R. N. Jones, S. E. Tyrrell, J. Kuo, C.-L. Ruth, K. S. Tuke, M. A. Yaghootkar, H. Freathy, R. M. Wood, A. R. Murray, A. Weedon, M. N. Harries, L. W. Kuchel, G. A. Ferrucci, L. Frayling, T. M. Melzer, D. 2017-04-18 doi:10.1101/128330 Cold Spring Harbor Laboratory Press 2017-04-18 https://biorxiv.org/cgi/content/short/176511v1?rss=1" Davies, G. Lam, M. Harris, S. E. Trampush, J. Luciano, M. Hill, W. D. Hagenaars, S. P. Ritchie, S. J. Marioni, R. E. Fawns-Ritchie, C. Liewald, D. C. Okely, J. Ahola-Olli, A. Barnes, C. L. K. Bertram, L. Bis, J. C. Burdick, K. E. Christoforou, A. DeRosse, P. Djurovic, S. Espeseth, T. Giakoumaki, S. Giddaluru, S. Gustavson, D. E. Hayward, C. Hofer, E. Ikram, M. A. Karlsson, R. Knowles, E. Lahti, J. Leber, M. Li, S. Mather, K. A. Melle, I. Morris, D. Oldmeadow, C. Palviainen, T. Payton, A. Pazoki, R. Petrovic, K. Reynolds, C. A. Sargurupremraj, M. Scholz 2017-08-17 doi:10.1101/176511 Cold Spring Harbor Laboratory Press 2017-08-17 https://biorxiv.org/cgi/content/short/079707v1?rss=1" Marcus R Munafo Kate Tilling Amy E Taylor David M Evans George Davey Smith 2016-10-07 doi:10.1101/079707 Cold Spring Harbor Laboratory Press 2016-10-07 https://biorxiv.org/cgi/content/short/204560v1?rss=1" Rüeger, S. McDaid, A. Kutalik, Z. 2017-10-18 doi:10.1101/204560 Cold Spring Harbor Laboratory Press 2017-10-18 https://biorxiv.org/cgi/content/short/223578v1?rss=1" Thorolfsdottir, R. B. Sveinbjornsson, G. Sulem, P. Jonsson, S. Halldorsson, G. Melsted, P. Ivarsdottir, E. V. Davidsson, O. B. Kristjansson, R. B. Thorleifsson, G. Helgadottir, A. Gretarsdottir, S. Norddahl, G. Rajamani, S. Torfason, B. Valgardsson, A. S. Sverrisson, J. T. Tragante, V. Asselbergs, F. W. Roden, D. M. Darbar, D. Pedersen, T. R. Sabatine, M. S. Lochen, M.-L. Halldorsson, B. V. Jonsdottir, I. Arnar, D. O. Thorsteinsdottir, U. Gudbjartsson, D. F. Holm, H. Stefansson, K. 2017-11-21 doi:10.1101/223578 Cold Spring Harbor Laboratory Press 2017-11-21 https://biorxiv.org/cgi/content/short/240283v1?rss=1" Plotnikov, D. Guggenheim, J. The UK Biobank Eye and Vision Consortium, 2017-12-29 doi:10.1101/240283 Cold Spring Harbor Laboratory Press 2017-12-29 https://biorxiv.org/cgi/content/short/154609v1?rss=1" Kerr, S. M. Campbell, A. Marten, J. Vitart, V. McIntosh, A. M. Porteous, D. J. Hayward, C. 2017-06-23 doi:10.1101/154609 Cold Spring Harbor Laboratory Press 2017-06-23 https://biorxiv.org/cgi/content/short/063636v1?rss=1" William David Hill Gail Davies Sarah E Harris Saskia P Hagenaars David Liewald Lars Penke Catherine R Gale Ian Deary 2016-07-13 doi:10.1101/063636 Cold Spring Harbor Laboratory Press 2016-07-13 https://biorxiv.org/cgi/content/short/130229v1?rss=1" Hall, L. S. Adams, M. J. Arnau-Soler, A. Clarke, T.-K. Howard, D. M. Zeng, Y. Davies, G. Hagenaars, S. P. Fernandez-Pujals, A. M. Gibson, J. Wigmore, E. M. Boutin, T. S. Hayward, C. Generation Scotland, MDD Working Group of the Psychiatric Genomics Cons, Porteous, D. J. Deary, I. J. Thomson, P. A. Haley, C. S. McIntosh, A. M. 2017-04-24 doi:10.1101/130229 Cold Spring Harbor Laboratory Press 2017-04-24 https://biorxiv.org/cgi/content/short/082792v1?rss=1" Lane, J. M. Liang, J. Vlasac, I. Anderson, S. G. Bechtold, D. A. Bowden, J. Emsley, R. Gill, S. Little, M. A. Luik, A. I. Loudon, A. Scheer, F. A. J. L. Purcell, S. M. Kyle, S. D. Lawlor, D. A. Zhu, X. Redline, S. Ray, D. W. Rutter, M. K. Saxena, R. 2016-10-24 doi:10.1101/082792 Cold Spring Harbor Laboratory Press 2016-10-24 https://biorxiv.org/cgi/content/short/133322v1?rss=1" Zhu, Z. Lee, P. H. Chaffin, M. D. Chung, W. Loh, P.-R. Lu, Q. Christiani, D. C. Liang, L. 2017-05-26 doi:10.1101/133322 Cold Spring Harbor Laboratory Press 2017-05-26 https://biorxiv.org/cgi/content/short/070177v1?rss=1" Tian Ge Chia-Yen Chen Benjamin M. Neale Mert R. Sabuncu Jordan W. Smoller 2016-08-18 doi:10.1101/070177 Cold Spring Harbor Laboratory Press 2016-08-18 https://biorxiv.org/cgi/content/short/208496v1?rss=1" Zhao, B. Ibrahim, J. G. Li, Y. Li, T. Wang, Y. Shan, Y. Zhu, Z. Zhou, F. Zhang, J. Huang, C. Liao, H. Yang, L. Thompson, P. M. Zhu, H. 2017-10-25 doi:10.1101/208496 Cold Spring Harbor Laboratory Press 2017-10-25 https://biorxiv.org/cgi/content/short/034207v1?rss=1" Bjarke Feenstra Alana Cavadino Jessica Tyrrell George McMahon Michael Nodzenski Momoko Horikoshi Frank Geller Ronny Myhre Rebecca Richmond Lavinia Paternoster Jonathan Bradfield Eskil Kreiner-Moller Ville Huikari Sarah Metrustry Kathryn Lunetta Jodie Painter Jouke-Jan Hottenga Catherine Allard Sheila Barton Ana Espinosa Julie Marsh Catherine Potter Wei Ang Diane Berry Luigi Bouchard Shikta Das Hakon Hakonarson Jani Heikkinen Berthold Hocher Albert Hofman Hazel Inskip Manolis Kogevinas Penelope Lind Letizia Marullo Sarah Medland Jeffrey Murray Ellen Nohr Christoph Reichetzeder Susan Ring Loreto 2015-12-11 doi:10.1101/034207 Cold Spring Harbor Laboratory Press 2015-12-11 https://biorxiv.org/cgi/content/short/072306v1?rss=1" Saskia P Hagenaars William David Hill Sarah E Harris Stuart J Ritchie Gail Davies David Liewald Catharine Gale David John Porteous Ian Deary Riccardo Marioni 2016-08-30 doi:10.1101/072306 Cold Spring Harbor Laboratory Press 2016-08-30 https://biorxiv.org/cgi/content/short/233692v1?rss=1" Williams, D. M. Jylhava, J. Pedersen, N. L. Hagg, S. 2017-12-13 doi:10.1101/233692 Cold Spring Harbor Laboratory Press 2017-12-13 https://biorxiv.org/cgi/content/short/178806v1?rss=1" Elliott, L. Sharp, K. Alfaro-Almagro, F. Douaud, G. Miller, K. Marchini, J. Smith, S. 2017-08-21 doi:10.1101/178806 Cold Spring Harbor Laboratory Press 2017-08-21 https://biorxiv.org/cgi/content/short/074781v1?rss=1" Hanieh Yaghootkar Michael Bancks Sam Jones Aaron McDaid Robin Beaumont Louise Donnelly Andrew Wood Archie Campbell Jessica Tyrrell Lynne Hocking Marcus Tuke Katherine Ruth Ewan Pearson Anna Murray Rachel Freathy Patricia Munroe Caroline Hayward Colin Palmer Michael Weedon James Pankow Timothy Frayling Zoltan Kutalik 2016-09-12 doi:10.1101/074781 Cold Spring Harbor Laboratory Press 2016-09-12 https://biorxiv.org/cgi/content/short/179317v1?rss=1" Klimentidis, Y. C. Raichlen, D. A. Bea, J. Garcia, D. O. Mandarino, L. J. Alexander, G. A. Chen, Z. Going, S. B. 2017-08-22 doi:10.1101/179317 Cold Spring Harbor Laboratory Press 2017-08-22 https://biorxiv.org/cgi/content/short/184945v1?rss=1" Theriault, S. Gaudreault, N. Lamontagne, M. Messika-Zeitoun, D. Clavel, M.-A. Capoulade, R. Dagenais, F. Pibarot, P. Mathieu, P. Bosse, Y. 2017-09-05 doi:10.1101/184945 Cold Spring Harbor Laboratory Press 2017-09-05 https://biorxiv.org/cgi/content/short/188086v1?rss=1" 0.07%). We applied this method to 25 UK Biobank diseases and complex traits (N = 113,851). All traits produced negative estimates with 20 significantly negative, implying larger rare variant effect sizes. The inferred best-fit distribution of true values across traits had mean -0.38 (s.e. 0.02) and standard deviation 0.08 (s.e. 0.03), with statistically significant heterogeneity across traits (P = 0.0014). Despite larger rare variant effect sizes, we show that for most traits analyzed, rare variants (MAF <1%) explain less than 10% of total SNP-heritability. Using evolutionary modeling and forward simulations, we validated the model of MAF-dependent trait effects and estimated the level of coupling between fitness effects and trait effects. Based on this analysis an average genome-wide negative selection coefficient on the order of 10-4 or stronger is necessary to explain the values that we inferred. ]]> Schoech, A. Jordan, D. Loh, P.-R. Gazal, S. O'Connor, L. Balick, D. J. Palamara, P. F. Finucane, H. Sunyaev, S. R. Price, A. L. 2017-09-13 doi:10.1101/188086 Cold Spring Harbor Laboratory Press 2017-09-13 https://biorxiv.org/cgi/content/short/201020v1?rss=1" Tikkanen, E. Gustafsson, S. Amar, D. Shcherbina, A. Waggott, D. Ashley, E. Ingelsson, E. 2017-10-10 doi:10.1101/201020 Cold Spring Harbor Laboratory Press 2017-10-10 https://biorxiv.org/cgi/content/short/072603v1?rss=1" Hans van Kippersluis Cornelius A Rietveld 2016-08-31 doi:10.1101/072603 Cold Spring Harbor Laboratory Press 2016-08-31 https://biorxiv.org/cgi/content/short/194167v1?rss=1" Verweij, N. van de Vegte, Y. J. van der Harst, P. 2017-10-04 doi:10.1101/194167 Cold Spring Harbor Laboratory Press 2017-10-04 https://biorxiv.org/cgi/content/short/218875v1?rss=1" Diogo, D. Tian, C. Franklin, C. Alanne-Kinnunen, M. March, M. Spencer, C. Vangjeli, C. Weale, M. Mattsson, H. Kilpelainen, E. Sleiman, P. Reilly, D. McElwee, J. Maranville, J. Chatterjee, A. Bhandari, A. the 23andMe Research Team, Reeve, M.-P. Hutz, J. Bing, N. John, S. MacArthur, D. Salomaa, V. Ripatti, S. Hakonarson, H. Daly, M. Palotie, A. Hinds, D. Donnelly, P. Fox, C. Day-Williams, A. Plenge, R. Runz, H. 2017-11-13 doi:10.1101/218875 Cold Spring Harbor Laboratory Press 2017-11-13 https://biorxiv.org/cgi/content/short/116707v1?rss=1" Clarke, T.-K. Adams, M. J. Davies, G. Howard, D. M. Hall, L. S. Padmanabhan, S. Murray, A. D. Smith, B. H. Campbell, A. Hayward, C. Porteous, D. J. Deary, I. J. McIntosh, A. M. 2017-03-14 doi:10.1101/116707 Cold Spring Harbor Laboratory Press 2017-03-14 https://biorxiv.org/cgi/content/short/215301v1?rss=1" T, Odds Ratio 16.9, p=3.12e-6; g.chr9:139435649C>T, Odds Ratio 19.6, p = 2.44e-6) amongst European-ancestry British individuals. This result was replicated in an independent analysis of 51 cases and 68,901 controls of non-European and mixed ancestry. We conclude that carrying rare predicted loss of function variants or either of two intronic variants in NOTCH1 confer significant risk for LVOTO. Our approach demonstrates the utility of population-based datasets in quantifying the specific risk of individual variants for disease related phenotypes.nnAuthor summaryCongenital heart defects are the most common class of birth defect and are present in 1% of live births. Although CHD cases are often clustered in families, and thus the causal variant(s) are seemingly inherited, finding genetic variants causing these defects has been challenging. With the knowledge that variation in the NOTCH1 gene previously has been associated with CHDs affecting the left side of the heart, our aim was to further investigate the role of different types of NOTCH1 variants in left sided CHDs in two cohorts - a cohort of Finnish families with severe lesions affecting the left side of the heart, and the UK Biobank population including individuals with less severe left-sided lesions such as bicuspid aortic valve, congenital aortic stenosis, and coarctation of the aorta. We found a causal loss-of-function NOTCH1 variant in 6% of the families in the Finnish cohort and in the UK Biobank cohort, we identified two rare variants in the non-coding region of NOTCH1, associated with severe left-sided CHDs. These findings support screening of NOTCH1 loss-of-function variants in patients with severe left sided congenital heart defects and suggests that non-coding region variants in NOTCH1 play a role in CHDs. ]]> Helle, E. Cordova-Palomera, A. Ojala, T. Saha, P. Potiny, P. Gustafsson, S. Ingelsson, E. Bamshad, M. Nickerson, D. Chong, J. X. University of Washington Center for Mendelian Geno, Ashley, E. Priest, J. R. 2017-11-07 doi:10.1101/215301 Cold Spring Harbor Laboratory Press 2017-11-07 https://biorxiv.org/cgi/content/short/182717v1?rss=1" Horikoshi, M. Day, F. Kamatani, Y. Hirata, M. Akiyama, M. Matsuda, K. Wright, H. Toro, C. Ojeda, S. Lomniczi, A. Kubo, M. Ong, K. Perry, J. 2017-08-30 doi:10.1101/182717 Cold Spring Harbor Laboratory Press 2017-08-30 https://biorxiv.org/cgi/content/short/038620v1?rss=1" Jacqueline M Lane Irma Vlasac Simon G Anderson Simon Kyle William G Dixon David A Bechtold Shubhroz Gill Max A Little Annemarie Luik Andrew Loudon Richard Emsley Frank AJL Scheer Deborah A Lawlor Susan Redline David W Ray Martin K Rutter Richa Saxena 2016-02-02 doi:10.1101/038620 Cold Spring Harbor Laboratory Press 2016-02-02 https://biorxiv.org/cgi/content/short/198234v1?rss=1" Evangelou, E. Warren, H. R. Mosen-Ansorena, D. Mifsud, B. Pazoki, R. Gao, H. Ntritsos, G. Dimou, N. Cabrera, C. P. Karaman, I. Ng, F. L. Evangelou, M. Witkowska, K. Tzanis, E. Hellwege, J. N. Giri, A. Velez Edwards, D. R. Sun, Y. V. Cho, K. Gaziano, J. M. Wilson, P. W. F. Tsao, P. S. Kovesdy, C. P. Esko, T. Magi, R. Milani, L. Almgren, P. Boutin, T. Debette, S. Ding, J. Giulianini, F. Holliday, E. G. Jackson, A. U. Li-Gao, R. Lin, W.-Y. Luan, J. Mangino, M. Oldmeadow, C. Prins, B. Qian, Y. Sargurupremraj, M. Shah, N. Surendran, P. Theriault, S. Verwe 2017-10-11 doi:10.1101/198234 Cold Spring Harbor Laboratory Press 2017-10-11 https://biorxiv.org/cgi/content/short/123729v1?rss=1" Ritchie, S. J. Cox, S. R. Shen, X. Lombardo, M. V. Reus, L. M. Alloza, C. Harris, M. A. Alderson, H. Hunter, S. Neilson, E. Liewald, D. C. Auyeung, B. Whalley, H. C. Lawrie, S. M. Gale, C. R. Bastin, M. E. McIntosh, A. M. Deary, I. J. 2017-04-04 doi:10.1101/123729 Cold Spring Harbor Laboratory Press 2017-04-04 https://biorxiv.org/cgi/content/short/189076v1?rss=1" Richardson, T. G. Haycock, P. C. Zheng, J. Timpson, N. J. Gaunt, T. R. Davey Smith, G. Relton, C. L. Hemani, G. 2017-09-14 doi:10.1101/189076 Cold Spring Harbor Laboratory Press 2017-09-14 https://biorxiv.org/cgi/content/short/154013v1?rss=1" Hatzikotoulas, K. Roposch, A. Shah, K. Clark, M. Bratherton, S. Limbani, V. Steinberg, J. Zengini, E. Warsame, K. Ratnayake, M. Tselepi, M. Schwartzentruber, J. Loughlin, J. Eastwood, D. Zeggini, E. Wilkinson, J. M. 2017-06-24 doi:10.1101/154013 Cold Spring Harbor Laboratory Press 2017-06-24 https://biorxiv.org/cgi/content/short/110460v1?rss=1" Shenkin, S. D. Pernet, C. Nichols, T. E. Poline, J.-B. Matthews, P. M. van der Lugt, A. Mackay, C. Linda, L. Mazoyer, B. Boardman, J. P. Thompson, P. M. Fox, N. Marcus, D. S. Sheikh, A. Cox, S. R. Anblagan, D. Job, D. E. Dickie, D. A. Rodriguez, D. Wardlaw, J. M. 2017-02-27 doi:10.1101/110460 Cold Spring Harbor Laboratory Press 2017-02-27 https://biorxiv.org/cgi/content/short/191080v1?rss=1" Tahmasbi, R. Evans, L. M. Turkheimer, E. Keller, M. C. 2017-09-19 doi:10.1101/191080 Cold Spring Harbor Laboratory Press 2017-09-19 https://biorxiv.org/cgi/content/short/213595v1?rss=1" Helgadottir, A. Thorleifsson, G. Gretarsdottir, S. Stefansson, O. A. Tragante, V. Thorolfsdottir, R. B. Jonsdottir, I. Bjornsson, T. Steinthorsdottir, V. Verweij, N. Nielsen, J. B. Zhou, W. Folkersen, L. Martinsson, A. Heydarpour, M. Prakash, S. Oskarsson, G. Gudbjartsson, T. Geirsson, A. Olafsson, I. Sigurdsson, E. L. Almgren, P. Melander, O. Franco-Cereceda, A. Hamsten, A. Fritsche, L. Lin, M. Yang, B. Hornsby, W. Guo, D. Brummett, C. M. Abecasis, G. Mathis, M. Milewicz, D. Body, S. C. Eriksson, P. Willer, C. J. Hveem, K. Newton-Cheh, C. Smith, J. G. D 2017-11-03 doi:10.1101/213595 Cold Spring Harbor Laboratory Press 2017-11-03 https://biorxiv.org/cgi/content/short/136192v1?rss=1" Tikkanen, E. Gustafsson, S. Ingelsson, E. 2017-05-12 doi:10.1101/136192 Cold Spring Harbor Laboratory Press 2017-05-12 https://biorxiv.org/cgi/content/short/115527v1?rss=1" Evans, L. Tahmasbi, R. Vrieze, S. Abecasis, G. Das, S. Bjelland, D. deCandia, T. Haplotype Reference Consortium, Goddard, M. Nealie, B. Yang, J. Visscher, P. Keller, M. 2017-03-09 doi:10.1101/115527 Cold Spring Harbor Laboratory Press 2017-03-09 https://biorxiv.org/cgi/content/short/107409v1?rss=1" Pare, G. Mao, S. Deng, W. Q. 2017-02-09 doi:10.1101/107409 Cold Spring Harbor Laboratory Press 2017-02-09 https://biorxiv.org/cgi/content/short/190124v1?rss=1" Lello, L. Avery, S. G. Tellier, L. Vazquez, A. de los Campos, G. Hsu, S. D. H. 2017-09-18 doi:10.1101/190124 Cold Spring Harbor Laboratory Press 2017-09-18 https://biorxiv.org/cgi/content/short/174755v1?rss=1" Zengini, E. Hatzikotoulas, K. Tachmazidou, I. Steinberg, J. Hartwig, F. P. Southam, L. Hackinger, S. Boer, C. G. Styrkarsdottir, U. Suveges, D. Kilian, B. Gilly, A. Ingvarsson, T. Jonsson, H. Babis, G. C. McCaskie, A. Uitterlinden, A. G. van Meurs, J. B. J. Thorsteinsdottir, U. Stefansson, K. Davey Smith, G. Wilkinson, J. M. Zeggini, E. 2017-08-11 doi:10.1101/174755 Cold Spring Harbor Laboratory Press 2017-08-11 https://biorxiv.org/cgi/content/short/092015v1?rss=1" Vaucher, J. Keating, B. J. Lasserre, A. M. Gan, W. Lyall, D. Ward, J. Smith, D. J. Pell, J. Sattar, N. Pare, G. Holmes, M. 2016-12-07 doi:10.1101/092015 Cold Spring Harbor Laboratory Press 2016-12-07 https://biorxiv.org/cgi/content/short/076133v1?rss=1" Gaurav Bhatia Nicholas A Furlotte Po-Ru Loh Xuanyao Liu Hilary Kiyo Finucane Alexander Gusev Alkes Price 2016-09-19 doi:10.1101/076133 Cold Spring Harbor Laboratory Press 2016-09-19 https://biorxiv.org/cgi/content/short/164426v1?rss=1" Jackson, V. E. Latourelle, J. C. Wain, L. V. Smith, A. V. Grove, M. L. Bartz, T. M. Obeidat, M. Province, M. A. Gao, W. Qaiser, B. Porteous, D. J. Cassano, P. A. Ahluwalia, T. S. Grarup, N. Li, J. Altmaier, E. Marten, J. Harris, S. E. Manichaikul, A. Pottinger, T. D. Li-Gao, R. Lind-Thomsen, A. Mahajan, A. Lahousse, L. Imboden, M. Teumer, A. Prins, B. Lyytikäinen, L.-P. Eiriksdottir, G. Franceschini, N. Sitlani, C. M. Brody, J. A. Bosse, Y. Timens, W. Kraja, A. Loukola, A. Tang, W. Liu, Y. Bork-Jensen, J. Justesen, J. M. Linneberg, A. Lange, L. 2017-07-17 doi:10.1101/164426 Cold Spring Harbor Laboratory Press 2017-07-17 https://biorxiv.org/cgi/content/short/203380v1?rss=1" Hormozdiari, F. Gazal, S. Geijn, B. v. d. Finucane, H. Ju, C. J.- T. Loh, P.-R. Schoech, A. Reshef, Y. Liu, X. O'Connor, L. Gusev, A. Eskin, E. Price, A. 2017-10-15 doi:10.1101/203380 Cold Spring Harbor Laboratory Press 2017-10-15 https://biorxiv.org/cgi/content/short/207498v1?rss=1" Rask-Andersen, M. Karlsson, T. Ek, W. E. Johansson, A. 2017-10-23 doi:10.1101/207498 Cold Spring Harbor Laboratory Press 2017-10-23 https://biorxiv.org/cgi/content/short/199828v1?rss=1" Treur, J. L. Gibson, M. Taylor, A. E. Rogers, P. Munafo, M. R. 2017-10-07 doi:10.1101/199828 Cold Spring Harbor Laboratory Press 2017-10-07 https://biorxiv.org/cgi/content/short/144352v1?rss=1" Ek, W. Karlsson, T. Azuaje Hernandez, C. Rask-Andersen, M. Johansson, A. 2017-05-31 doi:10.1101/144352 Cold Spring Harbor Laboratory Press 2017-05-31 https://biorxiv.org/cgi/content/short/076794v1?rss=1" Felix Day Deborah Thompson Hannes Helgason Daniel Chasman Hilary Finucane Patrick Sulem Katherine Ruth Sean Whalen Abhishek Sarkar Eva Albrecht Elisabeth Altmaier Marzyeh Amini Caterina Barbieri Thibaud Boutin Archie Campbell Ellen Demerath Ayush Giri Chunyan He Jouke Hottenga Robert Karlsson Ivana Kolcic Po-Ru Loh Kathryn Lunetta Massimo Mangino Brumat Marco Gerorge McMahon Sarah Medland Ilja Nolte Raymond Noordam Teresa Nutile Lavinia Paternoster Natalia Perjakova Eleonora Porcu Lynda Rose Katharina Schraut Ayellet Segre Albert Smith Lisette Stolk Alexander Teumer Irene Andrulis Stefania Ban 2016-09-23 doi:10.1101/076794 Cold Spring Harbor Laboratory Press 2016-09-23 https://biorxiv.org/cgi/content/short/196071v1?rss=1" Warrier, V. Bourgeron, T. Baron-Cohen, S. 2017-09-29 doi:10.1101/196071 Cold Spring Harbor Laboratory Press 2017-09-29 https://biorxiv.org/cgi/content/short/144410v1?rss=1" 1.36. Second, we used GWAS data from 50,160 T2D cases and 465,272 controls to fine-map associated coding variants in their regional context, with and without additional weighting, to account for the global enrichment of complex trait association signals in coding exons. We demonstrate convincing support (posterior probability >80% under the "annotation-weighted" model) that coding variants are causal for the association at 16 of the 40 signals (including novel signals involving POC5 p.His36Arg, ANKH p.Arg187Gln, WSCD2 p.Thr113Ile, PLCB3 p.Ser778Leu, and PNPLA3 p.Ile148Met). However, one third of coding variant association signals represent "false leads" at which naive analysis would have led to an erroneous inference regarding the effector transcript mediating the signal. Accurate identification of validated targets is dependent on correct specification of the contribution of coding and non-coding mediated mechanisms at associated loci. ]]> Mahajan, A. Morris, A. P. Rotter, J. I. McCarthy, M. I. 2017-05-31 doi:10.1101/144410 Cold Spring Harbor Laboratory Press 2017-05-31 https://biorxiv.org/cgi/content/short/192237v1?rss=1" Hughes, R. A. Davies, N. M. Davey Smith, G. Tilling, K. 2017-09-22 doi:10.1101/192237 Cold Spring Harbor Laboratory Press 2017-09-22 https://biorxiv.org/cgi/content/short/118018v1?rss=1" O'Connor, L. J. Gusev, A. Liu, X. Loh, P.-R. Finucane, H. K. Price, A. L. 2017-03-18 doi:10.1101/118018 Cold Spring Harbor Laboratory Press 2017-03-18 https://biorxiv.org/cgi/content/short/145755v1?rss=1" Zeng, J. de Vlaming, R. Wu, Y. Robinson, M. Lloyd-Jones, L. Yengo, L. Yap, C. Xue, A. Sidorenko, J. McRae, A. Powell, J. Montgomery, G. Metspalu, A. Esko, T. Gibson, G. Wray, N. Visscher, P. Yang, J. 2017-06-03 doi:10.1101/145755 Cold Spring Harbor Laboratory Press 2017-06-03 https://biorxiv.org/cgi/content/short/074815v1?rss=1" Neil M Davies Matt Dickson George Davey Smith Gerard van den Berg Frank Windmeijer 2016-09-13 doi:10.1101/074815 Cold Spring Harbor Laboratory Press 2016-09-13 https://biorxiv.org/cgi/content/short/070409v1?rss=1" Shea Andrews Debjani Das Kaarin J Anstey Simon Easteal 2016-08-19 doi:10.1101/070409 Cold Spring Harbor Laboratory Press 2016-08-19 https://biorxiv.org/cgi/content/short/164848v1?rss=1" Evans, L. Tahmasbi, R. Jones, M. Vrieze, S. Abecasis, G. Das, S. Bjelland, D. deCandia, T. - Haplotype Reference Consortium, Yang, J. Goddard, M. Visscher, P. Keller, M. 2017-07-17 doi:10.1101/164848 Cold Spring Harbor Laboratory Press 2017-07-17 https://biorxiv.org/cgi/content/short/184218v1?rss=1" Gage, S. H. Bowden, J. Davey Smith, G. Munafo, M. R. 2017-09-07 doi:10.1101/184218 Cold Spring Harbor Laboratory Press 2017-09-07 https://biorxiv.org/cgi/content/short/223248v1?rss=1" Yarmolinsky, J. Bonilla, C. Haycock, P. C. Langdon, R. J. Lotta, L. A. Langenberg, C. Relton, C. L. Lewis, S. J. Evans, D. M. the PRACTICAL consortium, Smith, G. D. Martin, R. M. 2017-11-21 doi:10.1101/223248 Cold Spring Harbor Laboratory Press 2017-11-21 https://biorxiv.org/cgi/content/short/205435v1?rss=1" 0.6). Results consistent with the published literature included genetically causal effects on myocardial infarction (MI) for LDL, triglycerides and BMI. Novel findings included a genetically causal effect of LDL on bone mineral density, consistent with clinical trials of statins in osteoporosis. These results demonstrate that it is possible to distinguish between genetic correlation and causation using genetic data. ]]> O'Connor, L. Price, A. L. 2017-10-18 doi:10.1101/205435 Cold Spring Harbor Laboratory Press 2017-10-18 https://biorxiv.org/cgi/content/short/187849v1?rss=1" Spiller, W. Slichter, D. Bowden, J. Davey Smith, G. 2017-09-15 doi:10.1101/187849 Cold Spring Harbor Laboratory Press 2017-09-15 https://biorxiv.org/cgi/content/short/194290v1?rss=1" Arnau Soler, A. Thomson, P. Adams, M. Generation Scotland, Hayward, C. 2017-09-27 doi:10.1101/194290 Cold Spring Harbor Laboratory Press 2017-09-27 https://biorxiv.org/cgi/content/short/134197v1?rss=1" DiPrete, T. A. Burik, C. Koellinger, P. 2017-05-05 doi:10.1101/134197 Cold Spring Harbor Laboratory Press 2017-05-05 https://biorxiv.org/cgi/content/short/127993v1?rss=1" Anderson, E. Wade, K. H. Hemani, G. Bowden, J. Korologou-Linden, R. Davey Smith, G. Ben-Shlomo, Y. Howe, L. D. Stergiakouli, E. 2017-04-17 doi:10.1101/127993 Cold Spring Harbor Laboratory Press 2017-04-17 https://biorxiv.org/cgi/content/short/167577v1?rss=1" - Major Depressive Disorder Working Group of the PGC, Wray, N. R. Sullivan, P. F. 2017-07-24 doi:10.1101/167577 Cold Spring Harbor Laboratory Press 2017-07-24 https://biorxiv.org/cgi/content/short/208629v1?rss=1" Zanetti, D. Tikkanen, E. Gustafsson, S. Priest, J. R. Burgess, S. Ingelsson, E. 2017-10-25 doi:10.1101/208629 Cold Spring Harbor Laboratory Press 2017-10-25 https://biorxiv.org/cgi/content/short/032789v1?rss=1" Aysu Okbay Bart M. L. Baselmans Jan-Emmanuel De Neve Patrick Turley Michel G. Nivard Mark A. Fontana Fleur S. W. Meddens Richard Karlsson Linnér Cornelius A. Rietveld Jaime Derringer Jacob Gratten James J. Lee Jimmy Z. Liu Ronald de Vlaming Dalton C. Conley George Davey Smith Albert Hofman Magnus Johannesson David I. Laibson Sarah E. Medland Michelle N. Meyer Joseph K. Pickrell Tonu Esko Robert F. Krueger Jonathan P. Beauchamp Philipp D. Koellinger Daniel J. Benjamin Meike Bartels David Cesarini Social Science Genetic Association Consortium 2015-11-24 doi:10.1101/032789 Cold Spring Harbor Laboratory Press 2015-11-24 https://biorxiv.org/cgi/content/short/082024v1?rss=1" Gazal, S. Finucane, H. Furlotte, N. A. Loh, P.-R. Palamara, P. F. Liu, X. Schoech, A. Bulik-Sullivan, B. Neale, B. M. Gusev, A. Price, A. L. 2016-10-19 doi:10.1101/082024 Cold Spring Harbor Laboratory Press 2016-10-19 https://biorxiv.org/cgi/content/short/190165v1?rss=1" Andrews, S. J. Anstey, K. J. 2017-09-18 doi:10.1101/190165 Cold Spring Harbor Laboratory Press 2017-09-18 https://biorxiv.org/cgi/content/short/233825v1?rss=1" Conrad, D. Lee, A. Rusch, J. Usmani, A. Lima, A. Wong, W. Huang, N. Lepamets, M. Vigh-Conrad, K. Worthington, R. Magi, R. Niederhuber, J. Wu, X. Atkinson, J. Hess, R. 2017-12-13 doi:10.1101/233825 Cold Spring Harbor Laboratory Press 2017-12-13 https://biorxiv.org/cgi/content/short/184234v1?rss=1" 12,000 individuals in the primary analysis, and >45,000 individuals in a secondary analysis using relaxed inclusion criteria. Our primary analysis used ever breastfeeding, FADS2 polymorphisms rs174575 and rs1535 coded assuming a recessive effect of the G allele, and intelligence quotient (IQ) in Z scores. Using random effects meta-analysis, ever breastfeeding was associated with 0.17 (95% CI: 0.03; 0.32) higher Z scores in IQ, or about 2.1 points. There was no strong evidence of interaction, with pooled covariate-adjusted interaction coefficients (i.e., difference between genetic groups of the difference in IQZ scores comparing ever with never breastfed individuals) of 0.12 (95% CI: -0.19; 0.43) and 0.06 (95% CI: -0.16; 0.27) for the rs174575 and rs1535 variants, respectively. Secondary analyses corroborated these results. In studies with >5.85 and <5.85 months of breastfeeding duration, pooled estimates for the rs174575 variant were 0.50 (95% CI: -0.06; 1.06) and 0.14 (95% CI: -0.10; 0.38), respectively, and 0.27 (95% CI: -0.28; 0.82) and -0.01 (95% CI: -0.19; 0.16) for the rs1535 variant. However, between-group comparisons were underpowered.nnConclusionsOur findings do not support an interaction between ever breastfeeding and FADS2 polymorphisms. However, our subgroup analysis raises the possibility that breastfeeding supplies LC-PUFAs requirements for cognitive development (if such threshold exists) if it lasts for some (currently unknown) time. Future studies in large individual-level datasets would allow properly powered subgroup analyses and would improve our understanding on the role of breastfeeding duration in the breastfeedingxFADS2 interaction. ]]> Hartwig, F. P. Davies, N. M. Horta, B. L. Ahluwalia, T. S. Bisgaard, H. Bonnelykke, K. Caspi, A. Moffitt, T. Poulton, R. Sajjad, A. Tiemeier, H. W. Dalmau Bueno, A. Guxens, M. Bustamante Pineda, M. Santa-Marina, L. Parker, N. Paus, T. Pausova, Z. Lauritzen, L. Schnurr, T. M. Michaelsen, K. F. Hansen, T. Oddy, W. Pennell, C. E. Warrington, N. M. Davey Smith, G. Victora, C. G. 2017-09-07 doi:10.1101/184234 Cold Spring Harbor Laboratory Press 2017-09-07 https://biorxiv.org/cgi/content/short/195933v1?rss=1" 0.8) with potentially casual missense variants. For seven of the novel GWAS loci, the lead SNP was in LD (> 0.8) with genetic variants associated with gene expression (eQTL) where, for example, increased levels of TMEM258 as well as decreased levels of HHEX and ADAM19 was associated with decreased odds for asthma.nnOur study shows that a large amount of the genetic contribution to asthma, hay fever and eczema is shared between the diseases. Nonetheless, a number of SNPs have a significantly larger effect on one of the phenotypes suggesting that part of the genetic contribution is more phenotype specific. ]]> Ek, W. E. Rask-Andersen, M. Karlsson, T. Johansson, A. 2017-09-29 doi:10.1101/195933 Cold Spring Harbor Laboratory Press 2017-09-29 https://biorxiv.org/cgi/content/short/173831v1?rss=1" Satizabal, C. L. Adams, H. H. H. Hibar, D. P. White, C. C. Stein, J. L. Scholz, M. Sargurupremraj, M. Jahanshad, N. Smith, A. V. Bis, J. C. Jian, X. Luciano, M. Hofer, E. Teumer, A. van der Lee, S. J. Yang, J. Yanek, L. R. Lee, T. V. Li, S. Hu, Y. Koh, J. Y. Eicher, J. D. Desrivieres, S. Arias-Vasquez, A. Chauhan, G. Athanasiu, L. Renteria, M. E. Kim, S. Hohn, D. Armstrong, N. J. Chen, Q. Holmes, A. J. den Braber, A. Kloszewska, I. Andersson, M. Espeseth, T. Grimm, O. Abramovic, L. Alhusaini, S. Milaneschi, Y. Papmeyer, M. Axelsson, T. Ehrlich, S. Roi 2017-08-28 doi:10.1101/173831 Cold Spring Harbor Laboratory Press 2017-08-28 https://biorxiv.org/cgi/content/short/184853v1?rss=1" Savage, J. E. Jansen, P. R. Stringer, S. Watanabe, K. Bryois, J. de Leeuw, C. A. Nagel, M. Awasthi, S. Barr, P. B. Coleman, J. R. I. Grasby, K. L. Hammerschlag, A. R. Kaminski, J. Karlsson, R. Krapohl, E. Lam, M. Nygaard, M. Reynolds, C. A. Trampush, J. W. Young, H. Zabaneh, D. Hägg, S. Hansell, N. K. Karlsson, I. K. Linnarsson, S. Montgomery, G. W. Munoz-Manchado, A. B. Quinlan, E. B. Schumann, G. Skene, N. Webb, B. T. White, T. Arking, D. E. Attix, D. K. Avramopoulos, D. Bilder, R. M. Bitsios, P. Burdick, K. E. Cannon, T. D. Chiba-Falek, O. Chr 2017-09-06 doi:10.1101/184853 Cold Spring Harbor Laboratory Press 2017-09-06 https://biorxiv.org/cgi/content/short/174565v1?rss=1" Raj, T. Li, Y. Wong, G. Ramdhani, S. Wang, Y.-c. Ng, B. Wang, M. Gupta, I. Haroutunian, V. Zhang, B. Schadt, E. E. Young-Pearse, T. Mostafavi, S. Sklar, P. Bennett, D. De Jager, P. L. 2017-08-10 doi:10.1101/174565 Cold Spring Harbor Laboratory Press 2017-08-10 https://biorxiv.org/cgi/content/short/168674v1?rss=1" Zhu, Z. Zheng, Z. Zhang, F. Wu, Y. Trzaskowski, M. Maier, R. Robinson, M. McGrath, J. Visscher, P. Wray, N. Yang, J. 2017-07-26 doi:10.1101/168674 Cold Spring Harbor Laboratory Press 2017-07-26 https://biorxiv.org/cgi/content/short/118810v1?rss=1" Turley, P. Walters, R. K. Maghzian, O. Okbay, A. Lee, J. J. Fontana, M. A. Nguyen-Viet, T. A. Furlotte, N. A. 23andMe Research Team, Social Science Genetic Association Consortium, Magnusson, P. Oskarsson, S. Johannesson, M. Visscher, P. M. Laibson, D. Cesarini, D. Neale, B. Benjamin, D. J. 2017-03-20 doi:10.1101/118810 Cold Spring Harbor Laboratory Press 2017-03-20 https://biorxiv.org/cgi/content/short/148890v1?rss=1" Dohmatob, E. Dumas, G. Bzdok, D. 2017-06-14 doi:10.1101/148890 Cold Spring Harbor Laboratory Press 2017-06-14 https://biorxiv.org/cgi/content/short/266411v1?rss=1" Ruderfer, D. M. Walsh, C. G. Aquirre, M. W. Ribeiro, J. D. Franklin, J. C. Rivas, M. A. 2018-02-15 doi:10.1101/266411 Cold Spring Harbor Laboratory Press 2018-02-15 https://biorxiv.org/cgi/content/short/234294v1?rss=1" Pasman, J. A. Verweij, K. J. H. Gerring, Z. Stringer, S. Sanchez-Roige, S. Treur, J. L. Abdellaoui, A. Nivard, M. G. Baselmans, B. M. L. Ong, J.-S. Ip, H. F. van der Zee, M. D. Bartels, M. Day, F. R. Fontanillas, P. Elson, S. L. the 23andMe Research Team, de Wit, H. Davis, L. K. MacKillop, J. International Cannabis Consortium, Derringer, J. L. Branje, S. J. T. Hartman, C. A. Heath, A. C. van Lier, P. A. C. Madden, P. A. F. Magi, R. Meeus, W. Montgomery, G. W. Oldehinkel, A. J. Pausova, Z. Ramos-Quiroga, J. A. Paus, T. Ribases, M. Kaprio, J. Boks, M. P. M 2018-01-08 doi:10.1101/234294 Cold Spring Harbor Laboratory Press 2018-01-08 https://biorxiv.org/cgi/content/short/250712v1?rss=1" Inouye, M. Abraham, G. Nelson, C. P. Wood, A. M. Sweeting, M. J. Dudbridge, F. Lai, F. Y. Kaptoge, S. Brozynska, M. Wang, T. Ye, S. Webb, T. R. Rutter, M. K. Tzoulaki, I. Patel, R. S. Loos, R. J. Keavney, B. Hemingway, H. Thompson, J. Watkins, H. Deloukas, P. Di Angelantonio, E. Butterworth, A. S. Danesh, J. Samani, N. J. 2018-01-19 doi:10.1101/250712 Cold Spring Harbor Laboratory Press 2018-01-19 https://biorxiv.org/cgi/content/short/243089v1?rss=1" Parker Jones, O. Alfaro-Almagro, F. Jbabdi, S. 2018-01-05 doi:10.1101/243089 Cold Spring Harbor Laboratory Press 2018-01-05 https://biorxiv.org/cgi/content/short/214973v1?rss=1" Jansen, P. R. Watanabe, K. Stringer, S. Skene, N. Bryois, J. Hammerschlag, A. R. de Leeuw, C. A. Benjamins, J. Munoz-Manchado, A. B. Nagel, M. Savage, J. E. Tiemeier, H. White, T. Tung, J. Y. Hinds, D. A. Vacic, V. Sullivan, P. F. van der Sluis, S. Polderman, T. J. Smit, A. B. Hjerling-Leffler, J. van Someren, E. J. Posthuma, D. 2018-01-30 doi:10.1101/214973 Cold Spring Harbor Laboratory Press 2018-01-30 https://biorxiv.org/cgi/content/short/350983v1?rss=1" Ferguson, A. Lyall, L. M. Ward, J. Strawbridge, R. J. Cullen, B. Graham, N. Niedzwiedz, C. L. Johnston, K. J. MacKay, D. Biello, S. M. Pell, J. P. Cavanagh, J. McIntosh, A. M. Doherty, A. Bailey, M. E. Lyall, D. M. Wyse, C. A. Smith, D. J. 2018-06-20 doi:10.1101/350983 Cold Spring Harbor Laboratory Press 2018-06-20 https://biorxiv.org/cgi/content/short/121012v1?rss=1" Veluchamy, A. Ballerini, L. Vitart, V. Hayward, C. Schraut, K. Joshi, P. Campbell, H. Kirin, M. Relan, D. Harris, S. Brown, E. Vaidya, S. Dhillon, B. Zhou, K. Pearson, E. Polasek, O. Deary, I. MacGillivray, T. Wilson, J. Trucco, E. Palmer, C. Doney, A. 2017-04-14 doi:10.1101/121012 Cold Spring Harbor Laboratory Press 2017-04-14 https://biorxiv.org/cgi/content/short/350355v1?rss=1" Ma, Y. Wei, P. 2018-06-19 doi:10.1101/350355 Cold Spring Harbor Laboratory Press 2018-06-19 https://biorxiv.org/cgi/content/short/349845v1?rss=1" Haworth, S. Shapland, C. Y. Hayward, C. Prins, B. P. Felix, J. F. Medina-Gomez, C. Rivadeneira, F. Wang, C. Ahluwalia, T. S. Vrijheid, M. Guxens, M. Sunyer, J. Tachmazidou, I. Walter, K. Iotchkova, V. Jackson, A. Cleal, L. Huffmann, J. Min, J. L. Sass, L. Timmers, P. R. H. J. UK10K consortium, Davey Smith, G. Fisher, S. E. Wilson, J. F. Cole, T. J. Fernandez-Orth, D. Bonnelykke, K. Bisgaard, H. Pennell, C. E. Jaddoe, V. W. V. Dedoussis, G. Timpson, N. J. Zeggini, E. Vitart, V. St Pourcain, B. 2018-06-18 doi:10.1101/349845 Cold Spring Harbor Laboratory Press 2018-06-18 https://biorxiv.org/cgi/content/short/343293v1?rss=1" Shrine, N. Guyatt, A. L. Erzurumluoglu, A. M. Jackson, V. E. Hobbs, B. D. Melbourne, C. Batini, C. Fawcett, K. A. Song, K. Sakornsakolpat, P. Li, X. Boxall, R. Reeve, N. F. Obeidat, M. Zhao, J. H. Wielscher, M. Understanding Society Scientific Group, Weiss, S. Kentistou, K. A. Cook, J. P. Sun, B. B. Zhou, J. Hui, J. Karrasch, S. Imboden, M. Harris, S. E. Marten, J. Enroth, S. Kerr, S. M. Surakka, I. Vitart, V. Lehtimäki, T. Allen, R. J. Bakke, P. S. Beaty, T. H. Bleecker, E. R. Bosse, Y. Brandsma, C.-A. Chen, Z. Crapo, J. D. Danesh, J. DeMeo, 2018-06-12 doi:10.1101/343293 Cold Spring Harbor Laboratory Press 2018-06-12 https://biorxiv.org/cgi/content/short/338863v1?rss=1" Morris, J. A. Kemp, J. P. Youlten, S. E. Laurent, L. Logan, J. G. Chai, R. Vulpescu, N. A. Forgetta, V. Kleinman, A. Mohanty, S. Sergio, C. M. Quinn, J. Nguyen-Yamamoto, L. Luco, A.-L. Vijay, J. Simon, M.-M. Pramatarova, A. Medina-Gomez, C. Trajanoska, K. Ghirardello, E. J. Butterfield, N. C. Curry, K. F. Leitch, V. D. Sparkes, P. C. Adoum, A.-T. Mannan, N. S. Komla-Ebri, D. Pollard, A. S. Dewhurst, H. F. Hassell, T. Beltejar, M.-J. G. Adams, D. J. Vaillancourt, S. M. Kaptoge, S. Baldock, P. Cooper, C. Reeve, J. Ntzani, E. Evangelou, E. Ohlsson, C. Karas 2018-06-11 doi:10.1101/338863 Cold Spring Harbor Laboratory Press 2018-06-11 https://biorxiv.org/cgi/content/short/335877v1?rss=1" Lyall, D. Ward, J. Banach, M. Davey Smith, G. Gill, J. Pell, J. Holmes, M. Sattar, N. 2018-05-31 doi:10.1101/335877 Cold Spring Harbor Laboratory Press 2018-05-31 https://biorxiv.org/cgi/content/short/329052v1?rss=1" Schmidt, A. F. Holmes, M. V. Preiss, D. Swerdlow, D. I. Denaxas, S. 155 additional authors, Hemingway, H. Asselbergs, F. Patel, R. Keating, B. J. Sattar, N. Houlston, R. Casas, J. Hingorani, A. D. 2018-05-25 doi:10.1101/329052 Cold Spring Harbor Laboratory Press 2018-05-25 https://biorxiv.org/cgi/content/short/327205v1?rss=1" Sundaresan, V. Griffanti, L. Kindalova, P. Alfaro-Almagro, F. Zamboni, G. Rothwell, P. M. Nichols, T. E. Jenkinson, M. 2018-05-21 doi:10.1101/327205 Cold Spring Harbor Laboratory Press 2018-05-21 https://biorxiv.org/cgi/content/short/318618v1?rss=1" Benner, C. Havulinna, A. Salomaa, V. Ripatti, S. Pirinen, M. 2018-05-10 doi:10.1101/318618 Cold Spring Harbor Laboratory Press 2018-05-10 https://biorxiv.org/cgi/content/short/319509v1?rss=1" Udler, M. S. Kim, J. von Grotthuss, M. Bonas-Guarch, S. Mercader, J. M. Cole, J. B. Chiou, J. Anderson, C. D. Boehnke, M. Laakso, M. Atzmon, G. Glaser, B. Gaulton, K. Flannick, J. Getz, G. Florez, J. C. 2018-05-10 doi:10.1101/319509 Cold Spring Harbor Laboratory Press 2018-05-10 https://biorxiv.org/cgi/content/short/285304v1?rss=1" Aylward, A. J. Chiou, J. Okino, M.-L. Kadakia, N. Gaulton, K. J. 2018-05-07 doi:10.1101/285304 Cold Spring Harbor Laboratory Press 2018-05-07 https://biorxiv.org/cgi/content/short/315259v1?rss=1" Zanetti, D. Rao, A. Gustafsson, S. Assimes, T. Montgomery, S. B. Ingelsson, E. 2018-05-05 doi:10.1101/315259 Cold Spring Harbor Laboratory Press 2018-05-05 https://biorxiv.org/cgi/content/short/311332v1?rss=1" Jordan, D. M. Verbanck, M. Do, R. 2018-04-30 doi:10.1101/311332 Cold Spring Harbor Laboratory Press 2018-04-30 https://biorxiv.org/cgi/content/short/114405v1?rss=1" Bansal, V. Mitjans, M. Burik, C. A. P. Karlsson Linner, R. Okbay, A. Rietveld, C. A. Begemann, M. Bonn, S. Ripke, S. Nivard, M. G. Ehrenreich, H. Koellinger, P. D. 2017-03-08 doi:10.1101/114405 Cold Spring Harbor Laboratory Press 2017-03-08 https://biorxiv.org/cgi/content/short/242776v1?rss=1" Ge, T. Chen, C.-Y. Vettermann, R. Tuominen, L. J. Holt, D. J. Sabuncu, M. R. Smoller, J. W. 2018-01-04 doi:10.1101/242776 Cold Spring Harbor Laboratory Press 2018-01-04 https://biorxiv.org/cgi/content/short/306209v1?rss=1" Sanderson, E. Davey Smith, G. Windmeijer, F. Bowden, J. 2018-04-27 doi:10.1101/306209 Cold Spring Harbor Laboratory Press 2018-04-27 https://biorxiv.org/cgi/content/short/194019v1?rss=1" Ni, G. Moser, G. Schizophrenia Working Group of the Psychiatric Gen, Wray, N. R. Lee, S. H. 2017-09-27 doi:10.1101/194019 Cold Spring Harbor Laboratory Press 2017-09-27 https://biorxiv.org/cgi/content/short/187625v1?rss=1" Willetts, M. Hollowell, S. Aslett, L. Holmes, C. Doherty, A. 2017-09-12 doi:10.1101/187625 Cold Spring Harbor Laboratory Press 2017-09-12 https://biorxiv.org/cgi/content/short/304741v1?rss=1" Wootton, R. E. Lawn, R. B. Millard, L. A. C. Davies, N. M. Taylor, A. E. Munafo, M. R. Timpson, N. J. Davis, O. S. P. Davey Smith, G. Haworth, C. M. A. 2018-04-20 doi:10.1101/304741 Cold Spring Harbor Laboratory Press 2018-04-20 https://biorxiv.org/cgi/content/short/303925v1?rss=1" Jones, S. E. van Hees, V. T. Mazzotti, D. R. Marques-Vidal, P. Sabia, S. van der Spek, A. Dashti, H. S. Engmann, J. Kocevska, D. Tyrrell, J. Beaumont, R. N. Hillsdon, M. Ruth, K. S. Tuke, M. A. Yaghootkar, H. Sharp, S. Jie, Y. Harrison, J. W. Freathy, R. M. Murray, A. Luik, A. I. Amin, N. Lane, J. M. Saxena, R. Rutter, M. K. Tiemeier, H. Kutalik, Z. Kumari, M. Frayling, T. M. Weedon, M. N. Gehrman, P. Wood, A. R. 2018-04-19 doi:10.1101/303925 Cold Spring Harbor Laboratory Press 2018-04-19 https://biorxiv.org/cgi/content/short/274977v1?rss=1" Dashti, H. Jones, S. E. Wood, A. R. Lane, J. van Hees, V. T. Wang, H. Rhodes, J. A. Song, Y. Patel, K. Anderson, S. G. Beaumont, R. N. Bechtold, D. A. Bowden, J. Cade, B. E. Garaulet, M. Kyle, S. D. Little, M. A. Loudon, A. S. Luik, A. I. Scheer, F. A. Spiegelhalder, K. Tyrrell, J. Gottlieb, D. J. Tiemeier, H. Ray, D. W. Purcell, S. M. Frayling, T. M. Redline, S. Lawlor, D. A. Rutter, M. K. Weedon, M. N. Saxena, R. 2018-04-19 doi:10.1101/274977 Cold Spring Harbor Laboratory Press 2018-04-19 https://biorxiv.org/cgi/content/short/303941v1?rss=1" Jones, S. E. Lane, J. M. Wood, A. R. van Hees, V. T. Tyrrell, J. Beaumont, R. N. Jeffries, A. R. Dashti, H. S. Hillsdon, M. Ruth, K. S. Tuke, M. A. Yagohootkar, H. Sharp, S. A. Ji, Y. Harrison, J. W. Dawes, A. Byrne, E. M. Tiemeier, H. Allebrandt, K. V. Bowden, J. Ray, D. W. Freathy, R. M. Murray, A. Mazzotti, D. R. Gehrman, P. R. 23andMe Research Team, Lawlor, D. A. Frayling, T. M. Rutter, M. K. Hinds, D. A. Saxena, R. Weedon, M. N. 2018-04-19 doi:10.1101/303941 Cold Spring Harbor Laboratory Press 2018-04-19 https://biorxiv.org/cgi/content/short/299826v1?rss=1" Sanderson, E. Davey Smith, G. Munafo, M. 2018-04-16 doi:10.1101/299826 Cold Spring Harbor Laboratory Press 2018-04-16 https://biorxiv.org/cgi/content/short/300889v1?rss=1" 0.3) genetic correlations between healthspan and the incidence of specific age-related disease present in our healthspan definition (with the notable exception of dementia). Other examples included all-cause mortality (as derived from parental survival, with{rho} g = -0.76), life-history traits (metrics of obesity, age at first birth), levels of different metabolites (lipids, amino acids, glycemic traits), and psychological traits (smoking behaviour, cognitive performance, depressive symptoms, insomnia). We conclude by noting that the healthspan phenotype, suggested and characterized here, offers a promising new way to investigate human longevity by exploiting the data from genetic and clinical data on living individuals. ]]> Zenin, A. Tsepilov, Y. Sharapov, S. Getmantsev, E. Menshikov, L. Fedichev, P. Aulchenko, Y. 2018-04-16 doi:10.1101/300889 Cold Spring Harbor Laboratory Press 2018-04-16 https://biorxiv.org/cgi/content/short/294876v1?rss=1" Haworth, S. Mitchell, R. Corbin, L. Wade, K. H. Dudding, T. Budu-Aggrey, A. Carslake, D. Hemani, G. Paternoster, L. Davey Smith, G. Davies, N. Lawson, D. Timpson, N. 2018-04-11 doi:10.1101/294876 Cold Spring Harbor Laboratory Press 2018-04-11 https://biorxiv.org/cgi/content/short/297572v1?rss=1" Gazal, S. Loh, P.-R. Finucane, H. Ganna, A. Schoech, A. Sunyaev, S. Price, A. 2018-04-09 doi:10.1101/297572 Cold Spring Harbor Laboratory Press 2018-04-09 https://biorxiv.org/cgi/content/short/294116v1?rss=1" McCartney, D. L. Stevenson, A. J. Ritchie, S. J. Walker, R. M. Zhang, Q. Morris, S. W. Campbell, A. Murray, A. D. Whalley, H. C. Gale, C. R. Porteous, D. J. Haley, C. S. McRae, A. F. Wray, N. R. Visscher, P. M. McIntosh, A. M. Evans, K. L. Deary, I. J. Marioni, R. E. 2018-04-03 doi:10.1101/294116 Cold Spring Harbor Laboratory Press 2018-04-03 https://biorxiv.org/cgi/content/short/291872v1?rss=1" 400,000) sample of seemingly outbred individuals to quantify the degree to which distant inbreeding is associated with 26 complex traits. We found robust evidence that distant inbreeding is inversely associated with fluid intelligence and a measure of lung function, and is positively associated with age at first sex, while other trait associations with inbreeding were attenuated after controlling for background sociodemographic characteristics. Our findings are consistent with evolutionary predictions that fluid intelligence, lung function, and age at first sex have been under selection pressures over time; however, they also suggest that confounding variables must be accounted for in order to reliably interpret results from these types of analyses. ]]> Johnson, E. C. Evans, L. M. Keller, M. C. 2018-03-29 doi:10.1101/291872 Cold Spring Harbor Laboratory Press 2018-03-29 https://biorxiv.org/cgi/content/short/281436v1?rss=1" Wade, K. H. Carslake, D. Sattar, N. Davey Smith, G. Timpson, N. J. 2018-03-26 doi:10.1101/281436 Cold Spring Harbor Laboratory Press 2018-03-26 https://biorxiv.org/cgi/content/short/287490v1?rss=1" Elliott, M. L. Belsky, D. W. Anderson, K. Corcoran, D. L. Ge, T. Knodt, A. Prinz, J. A. Sugden, K. Williams, B. Ireland, D. Poulton, R. Caspi, A. Holmes, A. Moffitt, T. Hariri, A. R. 2018-03-23 doi:10.1101/287490 Cold Spring Harbor Laboratory Press 2018-03-23 https://biorxiv.org/cgi/content/short/274654v1?rss=1" Yengo, L. Sidorenko, J. Kemper, K. E. Zheng, Z. Wood, A. R. Weedon, M. N. Frayling, T. M. Hirschhorn, J. Yang, J. Visscher, P. M. GIANT Consortium, 2018-03-02 doi:10.1101/274654 Cold Spring Harbor Laboratory Press 2018-03-02