Paediatrics (RCH) - Research Publications

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Author: Bahlo, Melanie × Author: Leventer, Richard × End date: 2011 × Start date: 2011 ×

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    Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes
    Smith, KR ; Bromhead, CJ ; Hildebrand, MS ; Shearer, AE ; Lockhart, PJ ; Najmabadi, H ; Leventer, RJ ; McGillivray, G ; Amor, DJ ; Smith, RJ ; Bahlo, M (BIOMED CENTRAL LTD, 2011)
    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.