The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes

Genome Biology

Volumn 17, Issue 1, 2016, Pages

  Gussow, Ayal B ^a,b   Petrovski, Slavé ^a,c   Wang, Quanli ^a   Allen, Andrew S ^d   Goldstein, David B ^a  

^a Columbia University ^*  (United States)

^b DUKE UNIVERSITY   (United States)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Domains; Exons; Intolerance; Pathogenic; RVIS; SubGERP; SubRVIS

Indexed keywords

CLASSIFICATION; GENE MUTATION; GENETIC VARIABILITY; MUTATION; PROTEIN DOMAIN; EXON; GENETIC VARIATION; GENETICS; HUMAN; HUMAN GENOME; OPEN READING FRAME; PROTEIN TERTIARY STRUCTURE;

EXONS; GENETIC VARIATION; GENOME, HUMAN; HUMANS; MUTATION; OPEN READING FRAMES; PROTEIN STRUCTURE, TERTIARY;

EID: 84954450849     PISSN: 14747596     EISSN: 1474760X     Source Type: Journal    
DOI: 10.1186/s13059-016-0869-4     Document Type: Article

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