GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data

Next-generation sequencing is revolutionising diagnosis and treatment of rare diseases, however its application to understanding common disease aetiology is limited. Rare disease applications binarily attribut...

Source: BMC Bioinformatics - May 16, 2019 Category: Bioinformatics Authors: E. Mossotto, J. J. Ashton, L. O ’Gorman, R. J. Pengelly, R. M. Beattie, B. D. MacArthur and S. Ennis Tags: Software Source Type: research