Title |
Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes
|
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Published in |
Genome Biology, September 2011
|
DOI | 10.1186/gb-2011-12-9-r85 |
Pubmed ID | |
Authors |
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 |
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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Geographical breakdown
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United States | 1 | 25% |
United Kingdom | 1 | 25% |
Australia | 1 | 25% |
Unknown | 1 | 25% |
Demographic breakdown
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Scientists | 4 | 100% |
Mendeley readers
Geographical breakdown
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France | 2 | <1% |
Germany | 1 | <1% |
Belgium | 1 | <1% |
Finland | 1 | <1% |
China | 1 | <1% |
Other | 1 | <1% |
Unknown | 183 | 89% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 74 | 36% |
Student > Ph. D. Student | 51 | 25% |
Student > Master | 13 | 6% |
Professor | 12 | 6% |
Other | 12 | 6% |
Other | 29 | 14% |
Unknown | 15 | 7% |
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Medicine and Dentistry | 45 | 22% |
Biochemistry, Genetics and Molecular Biology | 29 | 14% |
Computer Science | 9 | 4% |
Neuroscience | 5 | 2% |
Other | 10 | 5% |
Unknown | 17 | 8% |