Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease
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DOI: 10.1038/s41436-018-0281-4
Abstract: PurposeOne 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… read more here.
Keywords: homozygosity; supporting evidence; evidence pathogenicity; mendelian disease ... See more keywords