The haplo-spliceo-transcriptome: common variations in alternative splicing in the human population

被引：24

作者：

Graveley, Brenton R. ^{[1
]}

机构：

[1] Univ Connecticut, Ctr Hlth, Dept Genet & Dev Biol, Farmington, CT 06030 USA

来源：

TRENDS IN GENETICS | 2008年 / 24卷 / 01期

关键词：

D O I：

10.1016/j.tig.2007.10.004

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Numerous inherited human genetic disorders are caused by defects in pre-mRNA splicing. Two recent studies have added a new twist to the link between genetic variation and pre-mRNA splicing by identifying SNPs that correlate with heritable changes in alternative splicing but do not cause disease. This suggests that allele-specific alternative splicing is a mechanism that accounts for individual variation in the human population.

引用

页码：5 / 7

页数：3

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