Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes
- Author(s)
- Smith, KR; Bromhead, CJ; Hildebrand, MS; Shearer, AE; Lockhart, PJ; Najmabadi, H; Leventer, RJ; McGillivray, G; Amor, DJ; Smith, RJ; Bahlo, M;
- Details
- Publication Year 2011,Volume 12,Issue #9,Page R85
- Journal Title
- GENOME BIOLOGY
- Publication Type
- Journal Article
- 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.
- Publisher
- BIOMED CENTRAL LTD
- Keywords
- Mendelian disorders ; genetic linkage analysis ; genetic linkage mapping ; single nucleotide polymorphism ; exome ; genotyping ; software
- Research Division(s)
- Bioinformatics
- Publisher's Version
- https://doi.org/10.1186/gb-2011-12-9-r85
- Open Access at Publisher's Site
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308048/- Terms of Use/Rights Notice
- © 2011 Smith et al.; licensee BioMed Central Ltd. 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.
Creation Date: 2011-01-01 12:00:00