Ontology highlight
ABSTRACT:
SUBMITTER: Smedley D
PROVIDER: S-EPMC5011059 | biostudies-literature | 2016 Sep
REPOSITORIES: biostudies-literature
American journal of human genetics 20160825 3
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 diseases. Genomiser scores variants through either existing methods such as CADD or a b ...[more]