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IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease.

Human mutation - 1 Jun 2009

Carr Ian M, Sheridan Eamonn, Hayward Bruce E, Markham Alexander F, Bonthron David T

Abstract excerpt

Autozygosity mapping of recessive genes can be performed on a small number of affected individuals from consanguineous pedigrees. With the advent of microarray SNP analysis, acquiring genotype data has become extremely simple and quick, in comparison to gene mapping with microsatellite markers. However, the subsequent data analysis required to identify autozygous regions can still be a significant obstacle. For...

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PMID: 19405095
DOI: 10.1002/humu.20974

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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