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Human Y-chromosome variation in the genome-sequencing era
Nature Reviews Genetics ( IF 42.7 ) Pub Date : 2017-05-30 , DOI: 10.1038/nrg.2017.36
Mark A. Jobling , Chris Tyler-Smith

The properties of the human Y chromosome – namely, male specificity, haploidy and escape from crossing over — make it an unusual component of the genome, and have led to its genetic variation becoming a key part of studies of human evolution, population history, genealogy, forensics and male medical genetics. Next-generation sequencing (NGS) technologies have driven recent progress in these areas. In particular, NGS has yielded direct estimates of mutation rates, and an unbiased and calibrated molecular phylogeny that has unprecedented detail. Moreover, the availability of direct-to-consumer NGS services is fuelling a rise of 'citizen scientists', whose interest in resequencing their own Y chromosomes is generating a wealth of new data.



中文翻译:

基因组测序时代的人类Y染色体变异

人类Y染色体的特性(即男性特异性,单倍体性和逃避杂交)使其成为基因组的不寻常组成部分,并导致其遗传变异成为人类进化,种群历史,家谱研究的关键部分,法医学和男性医学遗传学。下一代测序(NGS)技术推动了这些领域的最新进展。尤其是,NGS可以直接估计突变率,并且可以进行无偏且经过校准的分子系统发育,其细节无与伦比。此外,直接面向消费者的NGS服务的推出正在推动“公民科学家”的兴起,他们对重新排列自己的Y染色体的兴趣正在产生大量新数据。

更新日期:2017-08-10
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