Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes |
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| 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 |
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| Institution: | Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia. katsmith@wehi.edu.au |
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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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