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

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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Bibliographic Details
Main Authors: 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: Article
Language:English
Published: BMC 2019-07-01
Series:BMC Medical Genomics
Subjects:
Loss-of-function variant
Cardiovascular traits
Genetic association
Integrative data analysis
Target identification and validation
Electronic Medical Records
Online Access:http://link.springer.com/article/10.1186/s12920-019-0542-3

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http://link.springer.com/article/10.1186/s12920-019-0542-3

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