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site-frequency spectra used in doi: 10.1101/2022.08.18.504427

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Figshare2022-12-11 更新2026-04-28 收录
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资源简介:
SNP variant counts by mutation rate, described in "Recurrent mutation in the ancestry of a rare variant" by John Wakeley, Wai-Tong (Louis) Fan, Evan Koch and Shamil Sunyaev (preprint available at https://doi.org/10.1101/2022.08.18.504427) and generated using the Roulette method in "A mutation rate model at the basepair resolution identifies the mutagenic effect of Polymerase III transcription" by Seplyarskiy et al (preprint available at https://doi.org/10.1101/2022.08.20.504670). "mu" is the mutation rate inferred using Roulette, and "n" is the number of sites with variant count "AC_nfe" in gnomAD v2.1.1 data for ~57K non-Finnish European samples.
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