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群体中通过遗传相同的染色体片段:模型与预测。

Blocks of chromosomes identical by descent in a population: Models and predictions.

作者信息

Tiret Mathieu, Hospital Frédéric

机构信息

UMR 1313 Génétique Animale et Biologie Intégrative, INRA, Jouy-en-Josas, France.

出版信息

PLoS One. 2017 Nov 2;12(11):e0187416. doi: 10.1371/journal.pone.0187416. eCollection 2017.

Abstract

With the highly dense genomic data available nowadays, ignoring linkage between genes would result in a huge loss of information. One way to prevent such a loss is to focus on the blocks of chromosomes shared identical by descent (IBD) in populations. The development of the theoretical framework modelling IBD processes is essential to support the advent of new tools such as haplotype phasing, imputation, inferring population structure and demographic history, mapping loci or detecting signatures of selection. This article aims to present the relevant models used in this context, and specify the underlying definitions of identity by descent that are yet to be gathered at one place. In light of this, we derived a general expression for the expected IBD block length, for any population model at any generation after founding.

摘要

鉴于如今可获得的高度密集的基因组数据,忽略基因之间的连锁会导致信息的巨大损失。防止这种损失的一种方法是关注群体中通过血缘相同(IBD)共享的染色体片段。对IBD过程进行建模的理论框架的发展对于支持诸如单倍型分型、填充、推断群体结构和人口历史、定位基因座或检测选择特征等新工具的出现至关重要。本文旨在介绍在此背景下使用的相关模型,并明确尚未集中整理的血缘相同的基本定义。有鉴于此,我们推导出了在奠基后任何一代的任何群体模型中预期IBD片段长度的一般表达式。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c9d8/5667777/93c239db3157/pone.0187416.g001.jpg

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