학술논문
The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome.
Document Type
article
Author
Source
PLoS Computational Biology, Vol 11, Iss 12, p e1004647 (2015)
Subject
Language
English
ISSN
1553-734X
1553-7358
02176572
1553-7358
02176572
Abstract
Sequencing projects have identified large numbers of rare stop-gain and frameshift variants in the human genome. As most of these are observed in the heterozygous state, they test a gene's tolerance to haploinsufficiency and dominant loss of function. We analyzed the distribution of truncating variants across 16,260 autosomal protein coding genes in 11,546 individuals. We observed 39,893 truncating variants affecting 12,062 genes, which significantly differed from an expectation of 12,916 genes under a model of neutral de novo mutation (p