Paper Details

Paper Title

A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.

Paper Journal Title

medRxiv

Paper Citation Count

Paper Publication Year

2023

Bio Mention

GMS, GenCC, GenCC disease, HiPPo, HiPPo variants, exome, gene panel, gene panels, genome, novel genes, patients

Mesh Descriptor

Author Name	Affiliation
Eleanor G Seaby	University Hospital Southampton
Eleanor G Seaby	Broad Institute of MIT and Harvard
Eleanor G Seaby	Boston Children's Hospital
Eleanor G Seaby	Imperial College London
Heidi L Rehm	Broad Institute of MIT and Harvard
Heidi L Rehm	Center for Genomic Medicine, Massachusetts General Hospital
Heidi L Rehm	Broad Institute of MIT and Harvard
Heidi L Rehm	Center for Genomic Medicine, Massachusetts General Hospital
Anne O'Donnell-Luria	Broad Institute of MIT and Harvard
Anne O'Donnell-Luria	Boston Children's Hospital
Anne O'Donnell-Luria	Center for Genomic Medicine, Massachusetts General Hospital
Anne O'Donnell-Luria	Broad Institute of MIT and Harvard
Anne O'Donnell-Luria	Boston Children's Hospital
Anne O'Donnell-Luria	Center for Genomic Medicine, Massachusetts General Hospital

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Dataset	Description	Source Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link

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