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A Worldwide Map of Human Structural Variants.
Trends in Genetics ( IF 13.6 ) Pub Date : 2020-07-18 , DOI: 10.1016/j.tig.2020.07.002
Francesco Montinaro 1 , Cristian Capelli 2
Affiliation  

Genomic variation extends from single nucleotide variants to large chromosomal rearrangements, but the extent of structural variation in Homo sapiens is still unclear. Almarri et al. provide a worldwide catalogue of structural variants present in human populations. Most of the reported variation is novel, with some variants being inherited from Neanderthals and Denisovans. Drift and selection shaped the distribution of these variants with some suggested to have functional implications.



中文翻译:

人类结构变异的全球地图。

基因组变异从单核苷酸变异延伸到较大的染色体重排,但是智人结构变异的程度仍不清楚。Almarri等。提供了人类中存在的结构变异的全球目录。报告的大多数变体是新颖的,有些变体是从尼安德特人和丹尼索瓦人那里继承来的。漂移和选择影响了这些变体的分布,其中一些被认为具有功能意义。

更新日期:2020-09-14
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