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Paper Title

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.

Paper Journal Title

Genet Med

Paper Citation Count

48

Paper Publication Year

2019

Bio Mention

Mesh Descriptor

Author Name	Affiliation
Jennefer N Kohler	Stanford Center for Undiagnosed Diseases
Casie A Genetti	The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Catherine A Brownstein	The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Catherine A Brownstein	The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Kelly Schoch	Duke University School of Medicine
Heidi Cope	Duke University School of Medicine
Vandana Shashi	Duke University School of Medicine
Alan H Beggs	The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Matthew T Wheeler	Stanford Center for Undiagnosed Diseases
Matthew T Wheeler	Stanford School of Medicine
Matthew T Wheeler	Stanford Center for Undiagnosed Diseases
Matthew T Wheeler	Stanford School of Medicine
Jonathan A Bernstein	Stanford School of Medicine

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Dataset	Description	Source Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link

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