A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations


A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations is a scholarly work by Peter Nürnberg, Friedhelm Hildebrandt, Gudrun Nürnberg, Franz Rüschendorf, Edgar A. Otto, Massimo Attanasio, Dominik Seelow, Virginia Vega-Warner, Christian Becker, Saskia F Heeringa, Gil Chernin, Christopher N Vlangos, Bethan E Hoskins, Bernward G Hinkes, Hassan Chaib, Shazia Ashraf, Dominik S Schoeb, and Bugsu Ovunc, published in 2009 in ''PLOS Genetics''. The main subjects of the publication include copy-number variation, Runs of Homozygosity, inbreeding, Disease gene identification, biology, gene, genetic mapping, phenotype, SNP array, Candidate gene, single-nucleotide polymorphism, genomics, Identity by descent, disease, transcription factor, genetics, and consanguinity. The authors demonstrate that disease-causing homozygous mutations can be detected in single cases from outbred populations within a single ZLR peak of homozygosity as short as 2 Mb, containing an average of only 16 candidate genes.

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