Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families.
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.
Carr
Ian M
IM
Leeds Institute for Molecular Medicine, St James's University Hospital, University of Leeds, Leeds, United Kingdom. i.m.carr@leeds.ac.uk
Flintoff
Kimberley J
KJ
Taylor
Graham R
GR
Markham
Alexander F
AF
Bonthron
David T
DT
D000465:Algorithms; D002874:Chromosome Mapping; D003241:Consanguinity; D030561:Databases, Nucleic Acid; D005260:Female; D015894:Genome, Human / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods*; D012984:Software