Personalized genealogical history of UK individuals inferred from biobank-scale IBD segments.
Personalized genealogical history of UK individuals inferred from biobank-scale IBD segments.
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从生物库规模IBD片段推断的英国个体的个性化家谱史。
DOI：
10.1186/s12915-021-00964-y
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发表时间：
2021-02-16
期刊：
影响因子：
5.4
通讯作者：
Zhi D
中科院分区：
文献类型：
--
作者：
Naseri A;Tang K;Geng X;Shi J;Zhang J;Shakya P;Liu X;Zhang S;Zhi D
群体内个体的系谱历史对于旨在揭示详细系谱信息和总体数量人口统计学历史的研究都是有意义的。然而，个体系谱历史的定量细节分析面临着来自不完整的可用系谱记录和系谱信息中缺乏客观和定量细节的挑战。虽然大多数个体的完整谱系信息很难在几代之后追踪，但可以使用通过血统同一性（IBD）片段揭示的遗传亲属来描述一个人的系谱历史，IBD片段是一个群体中两个个体共享的长基因组片段，由于遗传来自共同祖先，因此是相同的。当现代生物库收集一个群体中很大一部分的基因型信息时，可以使用这样的IBD片段来追踪一个人的密集遗传联系，从而提供了在潜在群体的背景下表征个体的机会。在这里，我们对英国生物银行参与者（占英国人口的0.7%）中的IBD部分进行了以个人为中心的分析。我们在所有500，000名英国生物库参与者中制作了超过5 cM的IBD片段的高质量调用集。平均而言，一个英国人与14，000名英国生物银行参与者分享IBD部分，我们称之为“亲戚”。使用这些片段，大约80%的人的基因组可以估算。随后，我们提出了系谱描述符的基础上共享至少一个IBD段的个人的相对队列的遗传连接，并表明，这样的描述符提供了重要的信息，一个人的基因组成，个人系谱史，和社会行为。通过分析相对计数共享段在不同的长度，我们确定了一组，潜在的英国犹太人，谁有一个独特的模式的家族扩张史。最后，我们利用社区亲戚的丰富程度，确定了个人偏好的地区差异，这些偏好有利于居住在离大家庭更近的地方。我们的分析揭示了遗传组成，个人家谱的历史，在人口规模的社会行为，开放的可能性，为进一步研究个人的遗传联系在生物库数据。在线版本包含补充材料，可通过10.1186/s12915-021-00964-y获得。
The genealogical histories of individuals within populations are of interest to studies aiming both to uncover detailed pedigree information and overall quantitative population demographic histories. However, the analysis of quantitative details of individual genealogical histories has faced challenges from incomplete available pedigree records and an absence of objective and quantitative details in pedigree information. Although complete pedigree information for most individuals is difficult to track beyond a few generations, it is possible to describe a person’s genealogical history using their genetic relatives revealed by identity by descent (IBD) segments—long genomic segments shared by two individuals within a population, which are identical due to inheritance from common ancestors. When modern biobanks collect genotype information for a significant fraction of a population, dense genetic connections of a person can be traced using such IBD segments, offering opportunities to characterize individuals in the context of the underlying populations. Here, we conducted an individual-centric analysis of IBD segments among the UK Biobank participants that represent 0.7% of the UK population. We made a high-quality call set of IBD segments over 5 cM among all 500,000 UK Biobank participants. On average, one UK individual shares IBD segments with 14,000 UK Biobank participants, which we refer to as “relatives.” Using these segments, approximately 80% of a person’s genome can be imputed. We subsequently propose genealogical descriptors based on the genetic connections of relative cohorts of individuals sharing at least one IBD segment and show that such descriptors offer important information about one’s genetic makeup, personal genealogical history, and social behavior. Through analysis of relative counts sharing segments at different lengths, we identified a group, potentially British Jews, who has a distinct pattern of familial expansion history. Finally, using the enrichment of relatives in one’s neighborhood, we identified regional variations of personal preference favoring living closer to one’s extended families. Our analysis revealed genetic makeup, personal genealogical history, and social behaviors at the population scale, opening possibilities for further studies of individual’s genetic connections in biobank data. The online version contains supplementary material available at 10.1186/s12915-021-00964-y.
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影响因子：
64.8
作者：
Bycroft C;Freeman C;Petkova D;Band G;Elliott LT;Sharp K;Motyer A;Vukcevic D;Delaneau O;O'Connell J;Cortes A;Welsh S;Young A;Effingham M;McVean G;Leslie S;Allen N;Donnelly P;Marchini J
通讯作者：
Marchini J
影响因子：
9.8
作者：
Browning, Sharon R.;Browning, Brian L.
通讯作者：
Browning, Brian L.
影响因子：
9.8
作者：
Dai, Chengzhen L.;Vazifeh, Mohammad M.;Martin, Alicia R.
通讯作者：
Martin, Alicia R.
影响因子：
7
作者：
Gusev, Alexander;Lowe, Jennifer K.;Pe'er, Itsik
通讯作者：
Pe'er, Itsik
影响因子：
16.6
作者：
Han E;Carbonetto P;Curtis RE;Wang Y;Granka JM;Byrnes J;Noto K;Kermany AR;Myres NM;Barber MJ;Rand KA;Song S;Roman T;Battat E;Elyashiv E;Guturu H;Hong EL;Chahine KG;Ball CA
通讯作者：
Ball CA