An Incomplete Understanding of Human Genetic Variation

作者：Huddleston John; Eichler Evan E

来源：GENETICS, 2016, 202(4): 1251-1254.

DOI：10.1534/genetics.115.180539

• human genetic variation
• indels
• structural variation
• copy number variation
• segmental duplication

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.

• 出版日期2016-4