An Incomplete Understanding of Human Genetic Variation
An Incomplete Understanding of Human Genetic Variation
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DOI：
10.1534/genetics.115.180539
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发表时间：
2016-04-01
期刊：
影响因子：
3.3
通讯作者：
Eichler, Evan E.
中科院分区：
文献类型：
--
作者：
Huddleston, John;Eichler, Evan E.
破译人类疾病的遗传基础需要全面了解遗传变异，无论其类别或频率如何。尽管人类遗传变异的数量已经被编目，但区分两个人类基因组的遗传差异的很大一部分仍然没有在碱基对水平上被理解。这是因为重点一直放在单核苷酸变异上，而不是更不容易处理和更复杂的遗传变异，包括插入缺失和结构变异。我们建议，后者将对人类表型产生很大影响，但需要更深入的覆盖范围和替代测序和绘图技术对基因组进行更系统的评估。
Deciphering the genetic basis of human disease requires a comprehensive knowledge of genetic variants irrespective of their class or frequency. Although an impressive number of human genetic variants have been catalogued, a large fraction of the genetic difference that distinguishes two human genomes is still not understood at the base-pair level. This is because the emphasis has been on single-nucleotide variation as opposed to less tractable and more complex genetic variants, including indels and structural variants. The latter, we propose, will have a large impact on human phenotypes but require a more systematic assessment of genomes at deeper coverage and alternate sequencing and mapping technologies.