现代藏族人群全基因组变异数据（2020）

我们获得了30个藏族个体的全基因组变异数据开展研究，采用DNA 微阵列（DNA Array）的方法，对30个样本进行了SNP分型检测，获得每个样品约70万位点（包括核基因组、线粒体DNA和Y染色体）分型结果。首先，在提取基因组DNA后，进行DNA扩增、酶促片段化、沉淀和重悬。随后样品过夜孵育过程中和BeadChip杂交，DNA经退火得到位点特异性的50-mer探针，与某种Infinium微珠类型共价偶联。然后采用Infinium XT继续酶基延伸赋予等位基因特异性，然后进行荧光染色。采用iScan系统检测微珠的荧光其强度，Illumina软件自动执行分析和基因型识别。最后得出每个样本的SNP分型结果。基于上述数据，进行相关生物信息分析（主要包括芯片位点质控分析、Y染色体和线粒体DNA的单倍群分型分析）。结合上年度的数据，有助于从核基因组、Y染色体和线粒体DNA的角度，解析藏族人群的遗传结构，通过与高原周边人群数据的比较，可以较为全面地追溯高原人群的迁徙和定居历史。

We conducted a study using whole-genome variation data from 30 Tibetan individuals. SNP genotyping was performed on the 30 samples using DNA Array technology, yielding genotyping results for approximately 700,000 genetic loci per sample, including those from the nuclear genome, mitochondrial DNA, and Y chromosome. First, following genomic DNA extraction, DNA amplification, enzymatic fragmentation, precipitation, and resuspension were carried out. Subsequently, the samples were hybridized to BeadChip during overnight incubation, where the DNA was annealed to generate locus-specific 50-mer probes covalently coupled to specific Infinium microbead types. Next, Infinium XT was utilized to perform enzymatic extension to confer allele specificity, followed by fluorescent staining. The fluorescence intensity of the microbeads was detected using the iScan system, and the Illumina software automatically executed data analysis and genotype calling. Ultimately, the SNP genotyping results for each sample were acquired. Based on the aforementioned data, relevant bioinformatic analyses were conducted, primarily including chip locus quality control (QC) analysis, as well as haplogroup typing analyses for the Y chromosome and mitochondrial DNA. Combined with the data from the previous year, this work facilitates the dissection of the genetic structure of the Tibetan population from the perspectives of the nuclear genome, Y chromosome, and mitochondrial DNA. By comparing with genomic datasets of populations surrounding the Tibetan Plateau, we can comprehensively trace the migration and settlement history of high-altitude plateau populations.

搜集汇总

背景与挑战

背景概述

该数据集包含30个藏族个体的全基因组变异数据，采用DNA微阵列方法进行SNP分型检测，每个样本约70万位点。数据以文本格式储存，文件名为xxxx.vcf，适用于研究藏族人群的遗传结构和高原人群的迁徙历史。