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

✍ Scribed by Ian M. Carr; Kimberley J. Flintoff; Graham R. Taylor; Alexander F. Markham; David T. Bonthron

• Publisher: John Wiley and Sons
• Year: 2006
• Tongue: English
• Weight: 633 KB
• Volume: 27
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.20383

✦ Synopsis

Communicated by A. Jamie Cuticchia

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.