拷贝数变化
节段重复
生物
基因复制
基因组
序列(生物学)
结构变异
基因
遗传学
人类基因组
计算生物学
拷贝数分析
约束(计算机辅助设计)
DNA测序
基因剂量
基因家族
数学
基因表达
几何学
作者
Can Alkan,Jeffrey M. Kidd,Tomàs Marquès‐Bonet,Gozde Aksay,Francesca Antonacci,Fereydoun Hormozdiari,Jacob O. Kitzman,Carl Baker,Maika Malig,Onur Mutlu,S. Cenk Şahinalp,Richard A. Gibbs,Evan E. Eichler
出处
期刊:Nature Genetics
[Springer Nature]
日期:2009-08-30
卷期号:41 (10): 1061-1067
被引量:689
摘要
Despite their importance in gene innovation and phenotypic variation, duplicated regions have remained largely intractable owing to difficulties in accurately resolving their structure, copy number and sequence content. We present an algorithm (mrFAST) to comprehensively map next-generation sequence reads, which allows for the prediction of absolute copy-number variation of duplicated segments and genes. We examine three human genomes and experimentally validate genome-wide copy number differences. We estimate that, on average, 73-87 genes vary in copy number between any two individuals and find that these genic differences overwhelmingly correspond to segmental duplications (odds ratio = 135; P < 2.2 x 10(-16)). Our method can distinguish between different copies of highly identical genes, providing a more accurate assessment of gene content and insight into functional constraint without the limitations of array-based technology.
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