Channel:  Human Pangenome Reference Consortium (HPRC)

166 Articles

Single cell multiome profiling of pancreatic islets reveals physiological changes in cell type-specific regulation associated with diabetes risk
Mummey, H., Elison, W., Korgaonkar, K., Elgamel, R., Kudtarkar, P., Griffin, E., Benaglio, P., Miller, M., Jha, A., Manning Fox, J. E., Mccarthy, M., Preissl, S., Gloyn, A. L., Macdonald, P. E., Gaulton, K. J.
10.1101/2024.08.03.606460 — Posted: 2024-08-06
Comprehensive transcription factor perturbations recapitulate fibroblast transcriptional states
Southard, K. M., Ardy, R. C., Tang, A., O'Sullivan, D. D., Metzner, E., Guruvayurappan, K., Norman, T. M.
10.1101/2024.07.31.606073 — Posted: 2024-08-03
CRISPR Screening Uncovers a Long-Range Enhancer for ONECUT1 in Pancreatic Differentiation and Links a Diabetes Risk Variant
Kaplan, S. J., Wong, W., Yan, J., Pulecio, J., Cho, H., Leslie-Iyer, J., Kazakov, J., Zhao, J., Li, Q., Murphy, D., Luo, R., Dey, K. K., Apostolou, E., Lesie, C. S., Huangfu, D.
10.1101/2024.04.26.591412 — Posted: 2024-06-28
Panacus: fast and exact pangenome growth and core size estimation
Parmigiani, L., Garrison, E., Stoye, J., Marschall, T., Doerr, D.
10.1101/2024.06.11.598418 — Posted: 2024-06-12
Single cell regulatory architecture of human pancreatic islets suggests sex differences in β cell function and the pathogenesis of type 2 diabetes.
Qadir, M. M. F., Elgamal, R. M., Song, K., Kudtarkar, P., Sakamuri, S. S. V. P., Katakam, P. V., El-Dahr, S., Kolls, J. K., Gaulton, K. J., Mauvais-Jarvis, F.
10.1101/2024.04.11.589096 — Posted: 2024-06-11
Structural polymorphism and diversity of human segmental duplications
Jeong, H., Dishuck, P. C., Yoo, D., Harvey, W. T., Munson, K. M., Lewis, A. P., Kordosky, J., Garcia, G. H., Human Genome Structural Variation Consortium (HGSVC), , Yilmaz, F., Hallast, P., Lee, C., Pastinen, T., Eichler, E. E.
10.1101/2024.06.04.597452 — Posted: 2024-06-06
BAllC and BAllCools: Efficient Formatting and Operating for Single-Cell DNA Methylation Data
Tian, W., Ding, W., Shen, J., Li, D., Wang, T., Ecker, J. R.
10.1101/2023.09.22.559047 — Posted: 2024-05-15
Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long reads
Keskus, A., Bryant, A., Ahmad, T., Yoo, B., Aganezov, S., Goretsky, A., Donmez, A., Lansdon, L. A., Rodriguez, I., Park, J., Liu, Y., Cui, X., Gardner, J., McNulty, B., Sacco, S., Shetty, J., Zhao, Y., Tran, B., Narzisi, G., Helland, A., Cook, D. E., Carroll, A., Chang, P.-C., Kolesnikov, A., Molloy, E. K., Pushel, I., Guest, E., Pastinen, T., Shafin, K., Miga, K. H., Malikic, S., Day, C.-P., Robine, N., Sahinalp, C., Dean, M., Farooqi, M. S., Paten, B., Kolmogorov, M.
10.1101/2024.03.22.24304756 — Posted: 2024-03-26
Identifying associations of de novo noncoding variants with autism through integration of gene expression, sequence and sex information
Li, R., Ernst, J.
10.1101/2024.03.20.585624 — Posted: 2024-03-21
Gapless assembly of complete human and plant chromosomes using only nanopore sequencing
Koren, S., Bao, Z., Guarracino, A., Ou, S., Goodwin, S., Jenike, K. M., Lucas, J., McNulty, B., Park, J., Rautianinen, M., Rhie, A., Roelofs, D., Schneiders, H., Vrijenhoek, I., Nijbroek, K., Ware, D., Schatz, M. C., Garrison, E., Huang, S., McCombie, W. R., Miga, K. H., Wittenberg, A. H. J., Phillippy, A. M.
10.1101/2024.03.15.585294 — Posted: 2024-03-19

RSS  Channel RSS