Paper Details

Paper Title

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.

Paper Journal Title

HGG Adv

Paper Citation Count

Paper Publication Year

2021

Bio Mention

HPO, Human, Human Phenotype Ontology, genes, genetic variant, rare disorders

Mesh Descriptor

Author Name	Affiliation
Casie A Genetti	The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Casie A Genetti
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
Jill A Madden	The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Piotr Sliz	The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Piotr Sliz	Boston Children's Hospital, Harvard Medical School
Pankaj B Agrawal	The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Pankaj B Agrawal	Boston Children's Hospital, Harvard Medical School
Alan H Beggs	The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School

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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