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Article

Autozygosity mapping with exome sequence data.

Human mutation - 1 Jan 2013

Carr Ian M, Bhaskar Sanjeev, O'Sullivan James, Aldahmesh Mohammed A, Shamseldin Hanan E, Markham Alexander F, Bonthron David T, Black Graeme, Alkuraya Fowzan S

Abstract excerpt

Autozygosity mapping is a powerful method for the identification of recessively inherited disease genes using small inbred families. Typically, microarray SNP genotype data are first used to identify autozygous regions as extended runs of homozygous genotypes. Next, candidate disease loci are found by defining regions that are autozygous in all affected patients. Finally, the disease gene is identified by...

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PMID: 23090942
DOI: 10.1002/humu.22220

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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