增加55个AISNP面板的参考人群：需求与益处。
Increasing the reference populations for the 55 AISNP panel: the need and benefits.
作者信息
Pakstis Andrew J, Kang Longli, Liu Lijun, Zhang Zhiying, Jin Tianbo, Grigorenko Elena L, Wendt Frank R, Budowle Bruce, Hadi Sibte, Al Qahtani Mariam Salam, Morling Niels, Mogensen Helle Smidt, Themudo Goncalo E, Soundararajan Usha, Rajeevan Haseena, Kidd Judith R, Kidd Kenneth K
机构信息
Department of Genetics, Yale University School of Medicine, P.O. Box 208005, 333 Cedar Street, New Haven, CT, 06520-8005, USA.
Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, China.
出版信息
Int J Legal Med. 2017 Jul;131(4):913-917. doi: 10.1007/s00414-016-1524-z. Epub 2017 Jan 9.
Ancestry inference for an individual can only be as good as the reference populations with allele frequency data on the SNPs being used. If the most relevant ancestral population(s) does not have data available for the SNPs studied, then analyses based on DNA evidence may indicate a quite distantly related population, albeit one among the more closely related of the existing reference populations. We have added reference population allele frequencies for 14 additional population samples (with >1100 individuals studied) to the 125 population samples previously published for the Kidd Lab 55 AISNP panel. Allele frequencies are now publicly available for all 55 SNPs in ALFRED and FROG-kb for a total of 139 population samples. This Kidd Lab panel of 55 ancestry informative SNPs has been incorporated in commercial kits by both ThermoFisher Scientific and Illumina for massively parallel sequencing. Researchers employing those kits will find the enhanced set of reference populations useful.
个体的祖先推断仅取决于所使用的单核苷酸多态性（SNP）的等位基因频率数据的参考群体。如果最相关的祖先群体没有所研究SNP的可用数据，那么基于DNA证据的分析可能会表明一个关系相当遥远的群体，尽管是现有参考群体中关系较密切的群体之一。我们已将另外14个群体样本（研究个体超过1100人）的参考群体等位基因频率添加到先前为基德实验室55个AISNP面板发布的125个群体样本中。现在，ALFRED和FROG-kb中所有55个SNP的等位基因频率可公开获取，涉及总共139个群体样本。这个由55个祖先信息SNP组成的基德实验室面板已被赛默飞世尔科技公司和Illumina公司纳入商业试剂盒中，用于大规模平行测序。使用这些试剂盒的研究人员会发现增强后的参考群体集很有用。
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