Human Genome Sequence and Variation
Human Genome Sequence and Variation
复制标题
DOI：
10.1007/978-3-540-37654-5_2
复制
发表时间：
2010-01-01
期刊：
影响因子：
--
通讯作者：
Antonarakis, Stylianos E.
中科院分区：
文献类型：
--
作者：
Antonarakis, Stylianos E.
对人类个体基因组内容的了解已经成为理解基因型和表型变异之间关系的必要条件。基因组序列和正在进行的功能注释需要在不同物种之间进行比较基因组分析和实验验证。广泛的常见和罕见的基因组变异存在，强烈影响个体之间的基因组功能，部分决定疾病易感性。
The knowledge of the content of the individual human genomes has become a sine qua non for the understanding of the relationship between genotypic and phenotypic variability. The genome sequence and the ongoing functional annotation require both comparative genome analysis among different species and experimental validation. Extensive common and rare genomic variability exists that strongly influences genome function among individuals, partially determining disease susceptibility.