Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

Katherine R Smith; Catherine J Bromhead; Michael S Hildebrand; A Eliot Shearer; Paul J Lockhart; Hossein Najmabadi; Richard J Leventer; George McGillivray; David J Amor; Richard J Smith; Melanie Bahlo

doi:10.1186/gb-2011-12-9-r85

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Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

Journal article

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Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

Katherine R Smith, Catherine J Bromhead, Michael S Hildebrand, A Eliot Shearer, Paul J Lockhart, Hossein Najmabadi, Richard J Leventer, George McGillivray, David J Amor, Richard J Smith, …

GenomeBiology.com, Vol.12(9), pp.R85-R85

2011

DOI: 10.1186/gb-2011-12-9-r85

PMCID: PMC3308048

PMID: 21917141

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Abstract

Many exome sequencing studies of Mendelian disorders fail to optimally exploit family information. Classical genetic linkage analysis is an effective method for eliminating a large fraction of the candidate causal variants discovered, even in small families that lack a unique linkage peak. We demonstrate that accurate genetic linkage mapping can be performed using SNP genotypes extracted from exome data, removing the need for separate array-based genotyping. We provide software to facilitate such analyses.

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Title: Subtitle: Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes
Creators: Katherine R Smith - Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia
Catherine J Bromhead - Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia
Michael S Hildebrand - Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
A Eliot Shearer - Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
Paul J Lockhart - Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria 3052, Australia
Hossein Najmabadi - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran 19834, Iran
Richard J Leventer - Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria 3052, Australia
George McGillivray - Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria 3052, Australia
David J Amor - Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria 3052, Australia
Richard J Smith - Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
Melanie Bahlo - Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia
Resource Type: Journal article
Publication Details: GenomeBiology.com, Vol.12(9), pp.R85-R85
DOI: 10.1186/gb-2011-12-9-r85
PMID: 21917141
PMCID: PMC3308048
NLM abbreviation: Genome Biol
ISSN: 1465-6906
eISSN: 1465-6914
Publisher: BioMed Central
Language: English
Date published: 2011
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984007181702771

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