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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.
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.