Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics
Author:
Funder
National Institute of Neurological Disorders and Stroke
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference35 articles.
1. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data;GM Cooper;Nat Rev Genet,2011
2. The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes;AB Gussow;Genome Biol,2016
3. The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity;S Petrovski;PLoS Genet,2015
4. Genic intolerance to functional variation and the interpretation of personal genomes;S Petrovski;PLoS Genet,2013
5. Pathogenic variants in non-protein-coding sequences;P Makrythanasis;Clin Genet,2013
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