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

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 demons...

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Autores principales: Smith, Katherine R, Bromhead, Catherine J, Hildebrand, Michael S, Shearer, A Eliot, Lockhart, Paul J, Najmabadi, Hossein, Leventer, Richard J, McGillivray, George, Amor, David J, Smith, Richard J, Bahlo, Melanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308048/
https://www.ncbi.nlm.nih.gov/pubmed/21917141
http://dx.doi.org/10.1186/gb-2011-12-9-r85
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author Smith, Katherine R
Bromhead, Catherine J
Hildebrand, Michael S
Shearer, A Eliot
Lockhart, Paul J
Najmabadi, Hossein
Leventer, Richard J
McGillivray, George
Amor, David J
Smith, Richard J
Bahlo, Melanie
author_facet Smith, Katherine R
Bromhead, Catherine J
Hildebrand, Michael S
Shearer, A Eliot
Lockhart, Paul J
Najmabadi, Hossein
Leventer, Richard J
McGillivray, George
Amor, David J
Smith, Richard J
Bahlo, Melanie
author_sort Smith, Katherine R
collection PubMed
description 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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spelling pubmed-33080482012-03-20 Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes Smith, Katherine R Bromhead, Catherine J Hildebrand, Michael S Shearer, A Eliot Lockhart, Paul J Najmabadi, Hossein Leventer, Richard J McGillivray, George Amor, David J Smith, Richard J Bahlo, Melanie Genome Biol Method 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. BioMed Central 2011 2011-09-14 /pmc/articles/PMC3308048/ /pubmed/21917141 http://dx.doi.org/10.1186/gb-2011-12-9-r85 Text en Copyright ©2011 Smith et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Method
Smith, Katherine R
Bromhead, Catherine J
Hildebrand, Michael S
Shearer, A Eliot
Lockhart, Paul J
Najmabadi, Hossein
Leventer, Richard J
McGillivray, George
Amor, David J
Smith, Richard J
Bahlo, Melanie
Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes
title Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes
title_full Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes
title_fullStr Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes
title_full_unstemmed Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes
title_short Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes
title_sort reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes
topic Method
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308048/
https://www.ncbi.nlm.nih.gov/pubmed/21917141
http://dx.doi.org/10.1186/gb-2011-12-9-r85
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