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Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk.
Yin X, Bose D, Kwon A, Hanks SC, Jackson AU, Stringham HM, Welch R, Oravilahti A, Fernandes Silva L; FinnGen; Locke AE, Fuchsberger C, Service SK, Erdos MR, Bonnycastle LL, Kuusisto J, Stitziel NO, Hall IM, Morrison J, Ripatti S, Palotie A, Freimer NB, Collins FS, Mohlke KL, Scott LJ, Fauman EB, Burant C, Boehnke M, Laakso M, Wen X. Yin X, et al. Among authors: hanks sc. Am J Hum Genet. 2022 Oct 6;109(10):1727-1741. doi: 10.1016/j.ajhg.2022.08.007. Epub 2022 Sep 1. Am J Hum Genet. 2022. PMID: 36055244 Free PMC article.
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G, Browning SR, Zöllner S, O'Connell JR, Mitchell BD; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; O'Connor TD. Kessler MD, et al. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2560-2569. doi: 10.1073/pnas.1902766117. Epub 2020 Jan 21. Proc Natl Acad Sci U S A. 2020. PMID: 31964835 Free PMC article.
Extent to which array genotyping and imputation with large reference panels approximate deep whole-genome sequencing.
Hanks SC, Forer L, Schönherr S, LeFaive J, Martins T, Welch R, Gagliano Taliun SA, Braff D, Johnsen JM, Kenny EE, Konkle BA, Laakso M, Loos RFJ, McCarroll S, Pato C, Pato MT, Smith AV; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Boehnke M, Scott LJ, Fuchsberger C. Hanks SC, et al. Am J Hum Genet. 2022 Sep 1;109(9):1653-1666. doi: 10.1016/j.ajhg.2022.07.012. Epub 2022 Aug 17. Am J Hum Genet. 2022. PMID: 35981533 Free PMC article.