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...

Descripción completa

Detalles Bibliográficos
Autores principales: Mossotto, E., Ashton, J. J., O’Gorman, L., Pengelly, R. J., Beattie, R. M., MacArthur, B. D., Ennis, S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Software
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

Internet

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

Ejemplares similares