SNP frequency estimation using massively parallel sequencing of pooled DNA

被引：36

作者：

Ingman, Max ^{[1
]}

Gyllensten, Ulf ^{[1
]}

机构：

[1] Uppsala Univ, Dept Genet & Pathol, Rudbeck Lab, S-75185 Uppsala, Sweden

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2009年 / 17卷 / 03期

关键词：

SNP; sequencing; LOCI;

D O I：

10.1038/ejhg.2008.182

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Resequencing of genomic regions that have been implicated by linkage and/or association studies to harbor genetic susceptibility loci represents a necessary step to identify causal variants. Massively parallel sequencing (MPS) offers the possibility of SNP discovery and frequency determination among pooled DNA samples. The strategies of pooling DNA samples and pooling PCR amplicons generated from individual DNA samples were evaluated, and both were found to return accurate estimates of SNP frequencies across varying levels of sequence coverage.

引用

页码：383 / 386

页数：4

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