Paper Details

Paper Title

A flexible computational pipeline for research analyses of unsolved clinical exome cases.

Paper Journal Title

NPJ Genom Med

Paper Citation Count

Paper Publication Year

2020

Bio Mention

OMIM, candidate, exomes, patient, patients, rare disease

Mesh Descriptor

Author Name	Affiliation
Timo Lassmann	Telethon Kids Institute, University of Western Australia
Timo Lassmann	Telethon Kids Institute, University of Western Australia
Stephanie Broley
Hugh Dawkins
Hugh Dawkins
Jack Goldblatt
Tudor Groza	Telethon Kids Institute, University of Western Australia
Tudor Groza
Tudor Groza	Telethon Kids Institute, University of Western Australia
Tudor Groza
Cathy Kiraly-Borri
Cathy Kiraly-Borri
Fiona McKenzie
Fiona McKenzie	University of Western Australia
Nicholas Pachter
Jennie Slee
Sharron Townshend
Gareth Baynam	Telethon Kids Institute, University of Western Australia
Gareth Baynam
Gareth Baynam	University of Western Australia
Gareth Baynam
Gareth Baynam	Telethon Kids Institute, University of Western Australia
Gareth Baynam
Gareth Baynam	University of Western Australia
Gareth Baynam
Jenefer M Blackwell	Telethon Kids Institute, University of Western Australia

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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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