Targeted analysis of polymorphic loci from low-coverage shotgun sequence data allows accurate genotyping of HLA genes in historical human populations

Targeted analysis of polymorphic loci from low-coverage shotgun sequence data allows accurate genotyping of HLA genes in historical human populations
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对低覆盖鸟枪序列数据的多态性位点进行针对性分析,可以对历史人群中的 HLA 基因进行准确的基因分型

DOI:
10.1038/s41598-020-64312-w
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发表时间:
--
期刊:
影响因子:
4.6
通讯作者:
Lenz TL
Lenz TL
中科院分区:
综合性期刊3区
文献类型:
--
作者:
Pierini F;Nutsua M;Böhme L;Özer O;Bonczarowska J;Susat J;Franke A;Nebel A;Krause-Kyora B;Lenz TL

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人类白细胞抗原(human leukocyte antigen,HLA)是一种高度多态性的抗原,在获得性免疫中起着重要作用,与多种复杂疾病有关。使用古DNA(aDNA)数据准确分析HLA基因对于了解它们在人类适应病原体中的作用至关重要。在这里,我们描述了从低覆盖率的鸟枪序列数据的多态性位点的靶向分析的TARGT管道。该管道成功地应用于中世纪的aDNA样本,并使用模拟的aDNA和来自1000个基因组计划的现代经验序列数据进行了验证。因此,TARGT管道能够准确分析历史(和现代)人群中的HLA多态性。
The highly polymorphic human leukocyte antigen (HLA) plays a crucial role in adaptive immunity and is associated with various complex diseases. Accurate analysis of HLA genes using ancient DNA (aDNA) data is crucial for understanding their role in human adaptation to pathogens. Here, we describe the TARGT pipeline for targeted analysis of polymorphic loci from low-coverage shotgun sequence data. The pipeline was successfully applied to medieval aDNA samples and validated using both simulated aDNA and modern empirical sequence data from the 1000 Genomes Project. Thus the TARGT pipeline enables accurate analysis of HLA polymorphisms in historical (and modern) human populations.
DOI: 10.1038/nmeth.1923
发表时间: 2012-03-04
期刊: NATURE METHODS
影响因子: 48
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