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Article

Homozygosity mapping on a single patient: identification of homozygous regions of recent common ancestry by using population data.

Human mutation - 1 Mar 2011

Zhang Lu, Yang Wanling, Ying Dingge, Cherny Stacey S, Hildebrandt Friedhelm, Sham Pak Chung, Lau Yu Lung

Abstract excerpt

Homozygosity mapping has played an important role in detecting recessive mutations using families of consanguineous marriages. However, detection of regions identical and homozygosity by descent (HBD) when family data are not available, or when relationships are unknown, is still a challenge. Making use of population data from high-density SNP genotyping may allow detection of regions HBD from recent common...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21309031
DOI: 10.1002/humu.21432
PMCID: PMC3357498

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HBD

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