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BioMed Central, Genome Biology, 9(12), p. R85

DOI: 10.1186/gb-2011-12-9-r85

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

Journal article published in 2011 by Katherine R. Smith, Catherine J. Bromhead, Michael S. Hildebrand ORCID, A. Eliot Shearer, A. Eliot Shearer, Paul J. Lockhart, Hossein Najmabadi, Richard J. Leventer, George McGillivray, David J. Amor, Richard J. Smith, Melanie Bahlo
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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.