GenomeDiver: a platform for phenotype-guided medical genomic diagnosis
GenomeDiver: a platform for phenotype-guided medical genomic diagnosis
About this item
Full title
Author / Creator
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 and Greally, John M.
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
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 patient’s disease. We have developed GenomeDiver to provide a use...
Alternative Titles
Full title
GenomeDiver: a platform for phenotype-guided medical genomic diagnosis
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8488006
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8488006
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-021-01219-5
