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Journal article

A systematic survey of loss-of-function variants in human protein-coding genes.

Abstract:

Genome-sequencing studies indicate that all humans carry many genetic variants predicted to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy in the human genome. Here we apply stringent filters to 2951 putative LoF variants obtained from 185 human genomes to determine their true prevalence and properties. We estimate that human genomes typically contain ~100 genuine LoF variants with ~20 genes completely inactivated. We identify rare and likely deleteriou...

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Publication status:
Published

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Publisher copy:
10.1126/science.1215040

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Journal:
Science (New York, N.Y.)
Volume:
335
Issue:
6070
Pages:
823-828
Publication date:
2012-02-05
DOI:
EISSN:
1095-9203
ISSN:
0036-8075
URN:
uuid:bf070d84-9c7e-44cf-9837-b5b1c4a61bdb
Source identifiers:
312895
Local pid:
pubs:312895

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