Article

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

2018-06-01

Abstract excerpt

NGS is a revolutionising diagnosis and treatment of rare diseases. However, its relatively modest application in common diseases is limited by analytical approaches. Instead of variant-level approaches, typical for rare disease or large cohort analyses, contemporary investigation of common polygenic disorders requires the development of tools combining mutational burden and biological impact of a personalised set...

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Literature Corpus work: dbf7f925-59af-5c51-ad8e-e301cdf82fb2
DOI: 10.1101/336701

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