Most damaging CADD scores for hg19 human genome build (CADD scores generated with bStatistic removed)
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https://datadryad.org/dataset/doi:10.5061/dryad.n8pk0p2x0
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资源简介:
Analyses of genetic variation in many taxa have established that neutral
genetic diversity is shaped by natural selection at linked sites. Whether
the mode of selection is primarily the fixation of strongly beneficial
alleles (selective sweeps) or purifying selection on deleterious mutations
(background selection) remains unknown, however. We address this question
in humans by fitting a model of the joint effects of selective sweeps and
background selection to autosomal polymorphism data from the 1000 Genomes
Project. After controlling for variation in mutation rates along the
genome, a model of background selection alone explains ~60% of the
variance in diversity levels at the megabase scale. Adding the effects of
selective sweeps driven by adaptive substitutions to the model does not
improve the fit, and when both modes of selection are considered jointly,
selective sweeps are estimated to have had little or no effect on linked
neutral diversity. The regions under purifying selection are best
predicted by phylogenetic conservation, with ~80% of the deleterious
mutations affecting neutral diversity occurring in non-exonic regions.
Thus, background selection is the dominant mode of linked selection in
humans, with marked effects on diversity levels throughout autosomes.
提供机构:
Dryad
创建时间:
2023-09-01



