纳米孔测序
生物
遗传学
基因组
人口
串联重复
仆从
DNA测序
计算生物学
人类基因组
基因组学
全基因组测序
可变数串联重复
作者
Satomi Mitsuhashi,Martin C. Frith,Naomichi Matsumoto
标识
DOI:10.1101/2019.12.19.883389
摘要
Abstract Tandem repeats are highly mutable and contribute to the development of human disease by a variety of mechanisms. However, it is difficult to predict which tandem repeats may cause a disease. We performed a genome-wide survey of the millions of human tandem repeats using long read genome sequencing data from 16 humans. We found that known Mendelian disease-causing or disease-associated repeats, especially coding CAG and 5’UTR GGC repeats, are relatively long and polymorphic in the general population. This method, especially if used in GWAS, may indicate possible new candidates of pathogenic or biologically important tandem repeats in human genomes.
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