Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.

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Authors
Wakeling, M. N.
Laver, T. W.
Wright, C. F.
De Franco, Elisa
Stals, Karen
Patch, A-M
Hattersley, Andrew T.
Flanagan, S. E.
Ellard, Sian
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
Type
Journal Article
Publisher
Nature
Rights
Archived with thanks to Genetics in medicine : official journal of the American College of Medical Genetics
One of the greatest challenges currently facing those studying Mendelian disease is identifying the pathogenic variant from the long list produced by a next-generation sequencing test. We investigate the predictive ability of homozygosity mapping for identifying the regions likely to contain the causative variant.
Citation
Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease. 2019 Apr;21(4):982-986 Epub 2018 Oct 3. Genet. Med.
Note