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

IM Carr, KJ Flintoff, GR Taylor, AF Markham… - Human …, 2006 - Wiley Online Library
IM Carr, KJ Flintoff, GR Taylor, AF Markham, DT Bonthron
Human mutation, 2006Wiley Online Library
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. Hum Mutat 27 (10) …
Abstract
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. Hum Mutat 27(10), 1041–1046, 2006. © 2006 Wiley‐Liss, Inc.
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