site-frequency spectra used in doi: 10.1101/2022.08.18.504427

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.

本数据集为基于突变率的单核苷酸多态性（Single Nucleotide Polymorphism, SNP）变异计数，相关描述见于John Wakeley、Wai-Tong（Louis）Fan、Evan Koch与Shamil Sunyaev所著的《稀有变异祖先谱系中的复发突变》，该预印本可通过https://doi.org/10.1101/2022.08.18.504427获取；该数据集采用Seplyarskiy等人在《基于碱基对分辨率的突变率模型揭示聚合酶III（Polymerase III）转录的诱变效应》一文中提出的Roulette方法生成，对应预印本可通过https://doi.org/10.1101/2022.08.20.504670获取。其中“μ（mu）”为采用Roulette方法推断得到的突变率，“n”为针对约5.7万名非芬兰裔欧洲人群样本的基因组聚合数据库（Genome Aggregation Database, gnomAD）v2.1.1版本中，变异计数为“AC_nfe”的位点总数。