Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits

Abstract Background Genetic loss-of-function variants (LoFs) associated with disease traits are increasingly recognized as critical evidence for the selection of therapeutic targets. We integrated the analysis of genetic and clinical data from 10,511 individuals in the Mount Sinai BioMe Biobank to i...

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Hauptverfasser:	Benjamin S. Glicksberg, Letizia Amadori, Nicholas K. Akers, Katyayani Sukhavasi, Oscar Franzén, Li Li, Gillian M. Belbin, Kristin L. Akers, Khader Shameer, Marcus A. Badgeley, Kipp W. Johnson, Ben Readhead, Bruce J. Darrow, Eimear E. Kenny, Christer Betsholtz, Raili Ermel, Josefin Skogsberg, Arno Ruusalepp, Eric E. Schadt, Joel T. Dudley, Hongxia Ren, Jason C. Kovacic, Chiara Giannarelli, Shuyu D. Li, Johan L. M. Björkegren, Rong Chen
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMC 2019-07-01
Schriftenreihe:	BMC Medical Genomics
Schlagworte:	Loss-of-function variant Cardiovascular traits Genetic association Integrative data analysis Target identification and validation Electronic Medical Records
Online-Zugang:	http://link.springer.com/article/10.1186/s12920-019-0542-3
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