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Key pointsN Autosomal recessive disease gene loci can be found by analysis of affected members of consanguineous families using autozygosity mapping.N Autozygosity mapping can be performed using SNPs, particularly SNP-chips bearing thousands of SNPs.N We have devised a method to analyse the raw output of an Affymetrix 10K SNP-chip using a freely available spreadsheet, EXCLUDEAR.N EXCLUDEAR detects significant regions of homozygosity in one, two, three, or four affected family members.1 of 4 www.jmedgenet.com
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C. Geoffrey Woods (2004) studied this question.
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