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人类中有害多态性的丰富度。

The abundance of deleterious polymorphisms in humans.

机构信息

Australian Rivers Institute, Griffith School of Environment, Griffith University, Nathan, Queensland 4111, Australia.

出版信息

Genetics. 2012 Apr;190(4):1579-83. doi: 10.1534/genetics.111.137893. Epub 2012 Jan 20.

DOI:10.1534/genetics.111.137893
PMID:22267501
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3316666/
Abstract

Here I show a gradual decline in the proportion of deleterious nonsynonymous SNPs (nSNPs) from tip to root of the human population tree. This study reveals that up to 48% of nSNPs specific to a single genome are deleterious in nature, which underscores the abundance of deleterious polymorphisms in humans.

摘要

在这里，我展示了人类群体树的末梢到根部有害非同义 SNP（nSNP）比例的逐渐下降。这项研究表明，多达 48%的特定于单个基因组的 nSNP 本质上是有害的，这强调了人类中有害多态性的丰富性。

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本文引用的文献

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Inference of human population history from individual whole-genome sequences.从个体全基因组序列推断人类种群历史。
Nature. 2011 Jul 13;475(7357):493-6. doi: 10.1038/nature10231.
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Uncovering the roles of rare variants in common disease through whole-genome sequencing.通过全基因组测序揭示常见疾病中罕见变异的作用。
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The population genetics of dN/dS.非同义替换率与同义替换率的群体遗传学
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The homozygosity test of neutrality.中性纯合子检验。
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