We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.
- Authors
Rödelsperger, Christian; Krawitz, Peter; Bauer, Sebastian; Hecht, Jochen; Bigham, Abigail W; Bamshad, Michael; de Condor, Birgit Jonske; Schweiger, Michal R; Robinson, Peter N
- Abstract
Next-generation sequencing and exome-capture technologies are currently revolutionizing the way geneticists screen for disease-causing mutations in rare Mendelian disorders. However, the identification of causal mutations is challenging due to the sheer number of variants that are identified in individual exomes. Although databases such as dbSNP or HapMap can be used to reduce the plethora of candidate genes by filtering out common variants, the remaining set of genes still remains on the order of dozens.
- Publication
Bioinformatics (Oxford, England), 2011, Vol 27, Issue 6, p829
- ISSN
1367-4811
- Publication type
Journal Article
- DOI
10.1093/bioinformatics/btr022