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GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data
BACKGROUND: 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 attribute genetic change(s) at a single locus to a specific phenotype. In common diseas...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6524327/ https://www.ncbi.nlm.nih.gov/pubmed/31096927 http://dx.doi.org/10.1186/s12859-019-2877-3 |