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Article

Extreme purifying selection against point mutations in the human genome.

Nature communications - 25 Jul 2022

Dukler Noah, Mughal Mehreen R, Ramani Ritika, Huang Yi-Fei, Siepel Adam

Abstract excerpt

Large-scale genome sequencing has enabled the measurement of strong purifying selection in protein-coding genes. Here we describe a new method, called ExtRaINSIGHT, for measuring such selection in noncoding as well as coding regions of the human genome. ExtRaINSIGHT estimates the prevalence of "ultraselection" by the fractional depletion of rare single-nucleotide variants, after controlling for variation in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35879308
DOI: 10.1038/s41467-022-31872-6
PMCID: PMC9314448

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