Using familial information for variant filtering in high-throughput sequencing studies.

Hum Genet · 2014 · PMC4185103 · PMID 25129038

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The application of HTS has resolved several such Mendelian disorders that had achieved promising linkage results, including highly significant linkage results (parametric LOD scores >3), and were awaiting causal gene discovery (Corbett et al. 2010 , 2011 ; Koenekoop et al. 2012 ; Reversade et al. 2009 ).

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