Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease

PURPOSE: 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 contai...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Wakeling, Matthew Neil, Laver, Thomas William, Wright, Caroline Fiona, De Franco, Elisa, Stals, Karen Lucy, Patch, Ann-Marie, Hattersley, Andrew Tym, Flanagan, Sarah Elizabeth, Ellard, Sian
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group US 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6330071/
https://ncbi.nlm.nih.gov/pubmed/30279471
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0281-4
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