GenomeDiver: A platform for phenotype-guided medical genomic diagnosis.

PURPOSE: Making a diagnosis from clinical genomic sequencing requires well-structured phenotypic data to guide genotype interpretation. A patient’s phenotypic features can be documented using the Human Phenotype Ontology (HPO), generating terms used to prioritize genes potentially causing the patien...

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Detalles Bibliográficos
Autores principales: Pearson, Nathaniel M., Stolte, Christian, Shi, Kevin, Beren, Faygel, Abul-Husn, Noura S., Bertier, Gabrielle, Brown, Kaitlyn, Diaz, George A., Odgis, Jacqueline A., Suckiel, Sabrina A., Horowitz, Carol R., Wasserstein, Melissa, Gelb, Bruce D., Kenny, Eimear E., Gagnon, Charles, Jobanputra, Vaidehi, Bloom, Toby, Greally, John M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8488006/
https://www.ncbi.nlm.nih.gov/pubmed/34113009
http://dx.doi.org/10.1038/s41436-021-01219-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8488006/
https://www.ncbi.nlm.nih.gov/pubmed/34113009
http://dx.doi.org/10.1038/s41436-021-01219-5

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