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Updated: Jul 20, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
Published on: November 19, 2013
Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families
Ian M Carr1, Kimberley J Flintoff, Graham R Taylor
1Leeds Institute for Molecular Medicine, St James's University Hospital, University of Leeds, Leeds, United Kingdom. i.m.carr@leeds.ac.uk
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.
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