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Helperfiles for using hmmix for calling archaic introgression into present day humans (both hg19 and hg38)

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NIAID Data Ecosystem2026-05-02 收录
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https://zenodo.org/record/10806732
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资源简介:
These files are: 1) Strict callability masks from 1000 genomes project in hg19 and hg38 coordinates 2) Outgroup files: hg38_Outgroup_1000g_HGDP.txt: Frequencies of derived alleles in 490 present individuals with Sub-Saharan related ancestry: 426 from 1000genomes project and 64 from HGDP (total=490) Only first two columns are used by hmmix. The remaining columns what the reference base (hg38 refgenome), ancestral base, derived bases and the frequency of the derived bases in HGDP and 1000genomes hg19_Outgroup_1000g.txt: Frequencies of derived alleles in 292 present individuals with Sub-Saharan related ancestry from 1000genomes 3) The mutation rate files are based on the outgroup files. They report the mutation rate in 1 Mb window scaled by the genomewide mutation rate  4) The reference genome for hg19 and hg38 5) The ancestral allele calls for hg19 and hg38

本次提供的文件包括: 1) 基于hg19与hg38基因组坐标的1000基因组计划(1000 Genomes Project)严格可调用性掩码文件。 2) 外群文件: hg38_Outgroup_1000g_HGDP.txt:收录490名具有撒哈拉以南相关血统的现存个体的衍生等位基因频率,其中426名来自1000基因组计划,64名来自人类基因组多样性计划(Human Genome Diversity Project, HGDP),总计490人。hmmix仅使用该文件的前两列,其余列分别对应参考碱基(hg38参考基因组)、祖先碱基、衍生碱基,以及HGDP与1000基因组计划中衍生碱基的频率。 hg19_Outgroup_1000g.txt:收录292名来自1000基因组计划、具有撒哈拉以南相关血统的现存个体的衍生等位基因频率。 3) 突变率文件:基于上述外群文件构建,报告了以全基因组突变率为基准进行缩放后的1 Mb窗口内的突变率。 4) 对应hg19与hg38版本的参考基因组文件。 5) 对应hg19与hg38版本的祖先等位基因注释文件。
创建时间:
2024-05-17
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