Journal
HUMAN MUTATION
Volume 27, Issue 10, Pages 1041-1046Publisher
WILEY-LISS
DOI: 10.1002/humu.20383
Keywords
autozygosity mapping; SNP; microarray; software; consanguinity
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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.
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