Article
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
American journal of human genetics - 1 Sept 2016
Smedley Damian, Schubach Max, Jacobsen Julius O B, Köhler Sebastian, Zemojtel Tomasz, Spielmann Malte, Jäger Marten, Hochheiser Harry, Washington Nicole L, McMurry Julie A, Haendel Melissa A, Mungall Christopher J, Lewis Suzanna E, Groza Tudor, Valentini Giorgio, Robinson Peter N
Abstract excerpt
The interpretation of non-coding variants still constitutes a major challenge in the application of whole-genome sequencing in Mendelian disease, especially for single-nucleotide and other small non-coding variants. Here we present Genomiser, an analysis framework that is able not only to score the relevance of variation in the non-coding genome, but also to associate regulatory variants to specific Mendelian...
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