Article
Exome-based mapping and variant prioritization for inherited Mendelian disorders.
American journal of human genetics - 6 Mar 2014
Koboldt Daniel C, Larson David E, Sullivan Lori S, Bowne Sara J, Steinberg Karyn M, Churchill Jennifer D, Buhr Aimee C, Nutter Nathan, Pierce Eric A, Blanton Susan H, Weinstock George M, Wilson Richard K, Daiger Stephen P
Abstract excerpt
Exome sequencing in families affected by rare genetic disorders has the potential to rapidly identify new disease genes (genes in which mutations cause disease), but the identification of a single causal mutation among thousands of variants remains a significant challenge. We developed a scoring algorithm to prioritize potential causal variants within a family according to segregation with the phenotype,...
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