Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

Title
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum
Authors
Keywords
exome sequencing, ultra-rare variants, rare variants, phewas, constraint genes, burden analysis, selection
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 102, Issue 6, Pages 1204-1211
Publisher
Elsevier BV
Online
2018-06-01
DOI
10.1016/j.ajhg.2018.05.002

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