Cargando…
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants
An increasing number of disorders have been identified for which two or more distinct alleles in two or more genes are required to either cause the disease or to significantly modify its onset, severity or phenotype. It is difficult to discover such interactions using existing approaches. The purpos...
Autores principales: | Boudellioua, Imane, Kulmanov, Maxat, Schofield, Paul N., Gkoutos, Georgios V., Hoehndorf, Robert |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168481/ https://www.ncbi.nlm.nih.gov/pubmed/30279426 http://dx.doi.org/10.1038/s41598-018-32876-3 |
Ejemplares similares
-
DeepPVP: phenotype-based prioritization of causative variants using deep learning
por: Boudellioua, Imane, et al.
Publicado: (2019) -
Semantic prioritization of novel causative genomic variants
por: Boudellioua, Imane, et al.
Publicado: (2017) -
Ontology-based validation and identification of regulatory phenotypes
por: Kulmanov, Maxat, et al.
Publicado: (2018) -
DeepPheno: Predicting single gene loss-of-function phenotypes using an ontology-aware hierarchical classifier
por: Kulmanov, Maxat, et al.
Publicado: (2020) -
Evaluating the effect of annotation size on measures of semantic similarity
por: Kulmanov, Maxat, et al.
Publicado: (2017)