Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

被引:135
作者
Carr, Ian M. [1 ]
Flintoff, Kimberley J. [1 ]
Taylor, Graham R. [1 ]
Markham, Alexander F. [1 ]
Bonthron, David T. [1 ]
机构
[1] Univ Leeds, Leeds Inst Mol Med, Leeds, W Yorkshire, England
关键词
autozygosity mapping; SNP; microarray; software; consanguinity;
D O I
10.1002/humu.20383
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Autozygosity mapping of recessive disorders using small numbers of highly inbred families is a powerful tool for disease gene identification. With the advent of cheap rapid methods for whole-genome SNP genotyping, data analysis, rather than laboratory work, has become rate,limiting for this approach. Here, we describe AutoSNPa, a computer program used for handling and visually presenting large amounts of SNP data, in such a way as to facilitate the rapid identification and subsequent scrutiny of autozygous regions.
引用
收藏
页码:1041 / 1046
页数:6
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