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179 Reviews — eLife — Genomics

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Highly accurate isoform identification for the human transcriptome
Sommer, M. J., Cha, S., Varabyou, A., Rincon, N., Park, S., Minkin, I., Pertea, M., Steinegger, M., Salzberg, S.
10.1101/2022.06.08.495354 — Posted: 2022-06-09 — Discussion: 2022-10-31  eLife
Promoter sequence and architecture determine expression variability and confer robustness to genetic variants
Einarsson, H., Salvatore, M., Vaagenso, C., Alcaraz, N., Bornholdt Lange, J., Rennie, S., Andersson, R.
10.1101/2021.10.29.466407 — Posted: 2021-10-30 — Discussion: 2022-10-27  eLife
Brown adipocytes local response to thyroid hormone is required for adaptive thermogenesis in adult male mice
Zekri, Y., Guyot, R., Suner, I. G., Canaple, L., Stein, A. G., Petit, J. V., Aubert, D., Richard, S., Flamant, F., Gauthier, K.
10.1101/2022.08.03.502639 — Posted: 2022-08-06 — Discussion: 2022-10-20  eLife
Uncovering perturbations in human hematopoiesis associated with healthy aging and myeloid malignancies at single cell resolution
Ainciburu, M., Ezponda, T., Berastegui, N., Alfonso-Pierola, A., Vilas-Zornoza, A., San Martin-Uriz, P., Alignani, D., Lamo de Espinosa, J., San Julian, M., Jimenez, T., Lopez, F., Muntion, S., Sanchez-Guijo, F., Molero, A., Montoro, J., Serrano, G., Diaz-Mazkiaran, A., Lasaga, M., Gomez-Cabrero, D., Diez-Campelo, M., Valcarcel, D., Hernaez, M., Romero, J. P., Prosper, F.
10.1101/2021.07.30.454542 — Posted: 2021-07-31 — Discussion: 2022-10-17  eLife
Transcriptional profiling of Hutchinson-Gilford Progeria syndrome fibroblasts reveals deficits in mesenchymal stem cell commitment to differentiation related to early events in endochondral ossification.
San Martin, R., Das, P., Sanders, J. T., Hill, A. M., McCord, R. P.
10.1101/2022.06.21.497024 — Posted: 2022-06-21 — Discussion: 2022-10-13  eLife
Mouse B2 SINE elements function as IFN-inducible enhancers
Horton, I., Kelly, C. J., Simpson, D. M., Chuong, E.
10.1101/2022.08.02.502523 — Posted: 2022-08-04 — Discussion: 2022-10-13  eLife
Integrative analysis of metabolite GWAS illuminates the molecular basis of pleiotropy and genetic correlation
Smith, C. J., Sinnott-Armstrong, N., Cichonska, A., Julkunen, H., Fauman, E., Wurtz, P., Pritchard, J. K.
10.1101/2022.04.02.486791 — Posted: 2022-04-04 — Discussion: 2022-09-09  eLife
Predicting mechanisms of action at genetic loci associated with discordant effects on type 2 diabetes and abdominal fat accumulation
Aberra, Y. T., Ma, L., Bjorkegren, J., Civelek, M.
10.1101/2022.04.27.489778 — Posted: 2022-04-29 — Discussion: 2022-08-11  eLife
Strict adherence to Mendel's First Law across a large sample of human sperm genomes
Carioscia, S. A., Weaver, K. J., Bortvin, A. N., Ariad, D., Bell, A. D., McCoy, R. C.
10.1101/2021.11.19.469261 — Posted: 2021-11-20 — Discussion: 2022-08-10  eLife
Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing
Alfano, M., De Antoni, L., Centofanti, F., Visconti, V. V., Maestri, S., Degli Esposti, C., Massa, R., D'Apice, M. R., Novelli, G., Delledonne, M., Botta, A., Rossato, M.
10.1101/2022.05.12.491603 — Posted: 2022-05-12 — Discussion: 2022-08-09  eLife

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