A Tandem Repeat Atlas for the Genome of Inbred Mouse Strains: A Genetic Variation Resource.

Wenlong Ren, Weida Liu, Zhuoqing Fang, Egor Dolzhenko, Ben Weisburd, Zhuanfen Cheng, Gary Peltz
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Abstract

Tandem repeats (TRs) are a significant source of genetic variation in the human population; and TR alleles are responsible for over 60 human genetic diseases and for inter-individual differences in many biomedical traits. Therefore, we utilized long-read sequencing and state of the art computational programs to produce a database with 2,528,854 TRs covering 39 inbred mouse strains. As in humans, murine TRs are abundant and were primarily located in intergenic regions. However, there were important species differences: murine TRs did not have the extensive number of repeat expansions like those associated with human repeat expansion diseases and they were not associated with transposable elements. We demonstrate by analysis of two biomedical phenotypes, which were identified over 40 years ago, that this TR database can enhance our ability to characterize the genetic basis for trait differences among the inbred strains.

近交系小鼠基因组串联重复图谱:一种遗传变异资源。
串联重复序列(TRs)是人类遗传变异的重要来源;和TR等位基因是60多种人类遗传疾病和许多生物医学性状的个体间差异的原因。因此,我们利用长读测序和最先进的计算程序生成了一个包含39个近交小鼠品系的2,528,854个TRs的数据库。与人类一样,小鼠的TRs数量丰富,主要位于基因间区。然而,存在重要的物种差异:小鼠TRs不具有与人类重复扩增疾病相关的大量重复扩增,并且它们与转座因子无关。通过对40多年前确定的两种生物医学表型的分析,我们证明了这个TR数据库可以增强我们表征近交系间性状差异遗传基础的能力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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