Homozygosity mapping on a single patient—identification of homozygous regions of recent common ancestry by using population data
dc.contributor.author | Zhang, Lu | en_US |
dc.contributor.author | Yang, Wanling | en_US |
dc.contributor.author | Ying, Dingge | en_US |
dc.contributor.author | Cherny, Stacey S. | en_US |
dc.contributor.author | Hildebrandt, Friedhelm | en_US |
dc.contributor.author | Sham, Pak Chung | en_US |
dc.contributor.author | Lau, Yu Lung | en_US |
dc.date.accessioned | 2011-03-10T16:03:13Z | |
dc.date.accessioned | 2011-03-10T16:03:13Z | |
dc.date.available | 2012-04-30T18:27:22Z | en_US |
dc.date.issued | 2011-03 | en_US |
dc.identifier.citation | Zhang, Lu; Yang, Wanling; Ying, Dingge; Cherny, Stacey S.; Hildebrandt, Friedhelm; Sham, Pak Chung; Lau, Yu Lung (2011). "Homozygosity mapping on a single patient—identification of homozygous regions of recent common ancestry by using population data." Human Mutation 32(3): 345-353. <http://hdl.handle.net/2027.42/83193> | en_US |
dc.identifier.issn | 1059-7794 | en_US |
dc.identifier.issn | 1098-1004 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/83193 | |
dc.description.abstract | 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 founders in singleton patients without genealogy information. We report a novel algorithm that detects such regions by estimating the population haplotype frequencies ( HF ) for an entire homozygous region. We also developed a simulation method to evaluate the probability of HBD and linkage to disease for a homozygous region by examining the best regions in unaffected controls from the host population. The method can be applied to diseases of Mendelian inheritance but can also be extended to complex diseases to detect rare founder mutations that affect a very small number of patients using either multiplex families or sporadic cases. Testing of the method on both real cases (singleton affected) and simulated data demonstrated its superb sensitivity and robustness under genetic heterogeneity. Hum Mutat 32:345–353, 2011. © 2011 Wiley-Liss, Inc. | en_US |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | Homozygosity mapping on a single patient—identification of homozygous regions of recent common ancestry by using population data | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Pediatrics, University of Michigan School of Medicine, Ann Arbor, Michigan ; Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, Michigan ; Howard Hughes Medical Institute, University of Michigan School of Medicine, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationother | Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong | en_US |
dc.contributor.affiliationother | Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong ; These two authors contributed equally to this work. ; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, 21 Sassoon Road, Hong Kong, China | en_US |
dc.contributor.affiliationother | Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong | en_US |
dc.contributor.affiliationother | Department of Psychiatry and the State Key Laboratory for Brain and Cognitive Sciences, University of Hong Kong, Hong Kong | en_US |
dc.contributor.affiliationother | Department of Psychiatry and the State Key Laboratory for Brain and Cognitive Sciences, University of Hong Kong, Hong Kong | en_US |
dc.contributor.affiliationother | Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong | en_US |
dc.identifier.pmid | 21309031 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/83193/1/21432_ftp.pdf | |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/83193/2/humu_21432_sm_SupplInfo.pdf | |
dc.identifier.doi | 10.1002/humu.21432 | en_US |
dc.identifier.source | Human Mutation | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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