P630: ClinGen curation of ClinVar: Improving a critical community resource*

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Main Authors: Heidi Rehm, Julie Ratliff, Pamela Robertson, Danielle Azzariti, Larry Babb, Anabella Popiel, Audrey O’Neill, Vanessa Gitau, Ryan Webb, Eric Coleman, Kyle Ferriter, Terry O’Neill, Kuljeet Kaur, Shanmuga Chitipiralla, Chao Chen, Baoshan Gu, Jinpeng Yang, Steven Harrison, Erin Riggs, Marina DiStefano, Melissa Landrum
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774425010386
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author Heidi Rehm
Julie Ratliff
Pamela Robertson
Danielle Azzariti
Larry Babb
Anabella Popiel
Audrey O’Neill
Vanessa Gitau
Ryan Webb
Eric Coleman
Kyle Ferriter
Terry O’Neill
Kuljeet Kaur
Shanmuga Chitipiralla
Chao Chen
Baoshan Gu
Jinpeng Yang
Steven Harrison
Erin Riggs
Marina DiStefano
Melissa Landrum
author_facet Heidi Rehm
Julie Ratliff
Pamela Robertson
Danielle Azzariti
Larry Babb
Anabella Popiel
Audrey O’Neill
Vanessa Gitau
Ryan Webb
Eric Coleman
Kyle Ferriter
Terry O’Neill
Kuljeet Kaur
Shanmuga Chitipiralla
Chao Chen
Baoshan Gu
Jinpeng Yang
Steven Harrison
Erin Riggs
Marina DiStefano
Melissa Landrum
author_sort Heidi Rehm
collection DOAJ
format Article
id doaj-art-8100efed96fb4c98aa520309ae6be56f
institution OA Journals
issn 2949-7744
language English
publishDate 2025-01-01
publisher Elsevier
record_format Article
series Genetics in Medicine Open
spelling doaj-art-8100efed96fb4c98aa520309ae6be56f2025-08-20T02:19:23ZengElsevierGenetics in Medicine Open2949-77442025-01-01310299910.1016/j.gimo.2025.102999P630: ClinGen curation of ClinVar: Improving a critical community resource*Heidi Rehm0Julie Ratliff1Pamela Robertson2Danielle Azzariti3Larry Babb4Anabella Popiel5Audrey O’Neill6Vanessa Gitau7Ryan Webb8Eric Coleman9Kyle Ferriter10Terry O’Neill11Kuljeet Kaur12Shanmuga Chitipiralla13Chao Chen14Baoshan Gu15Jinpeng Yang16Steven Harrison17Erin Riggs18Marina DiStefano19Melissa Landrum20Massachusetts General Hospital and Broad Institute of MIT and HarvardBroad Institute of MIT and HarvardBroad Institute of MIT and HarvardBroad Institute of MIT and HarvardBroad Institute of MIT and HarvardBroad Institute of MIT and HarvardAmbry GeneticsBroad Institute of MIT and HarvardBroad Institute of MIT and HarvardBroad Institute of MIT and HarvardBroad Institute of MIT and HarvardBroad Institute of MIT and HarvardNational Center for Biotechnology Information, National Library of Medicine, NIHNational Center for Biotechnology Information, National Library of Medicine, NIHNational Center for Biotechnology Information, National Library of Medicine, NIHNational Center for Biotechnology Information, National Library of Medicine, NIHNational Center for Biotechnology Information, National Library of Medicine, NIHAmbry Genetics and Broad Institute or MIT and HarvardAutism & Developmental Institute, Geisinger Health SystemsBroad Institute of MIT and HarvardNational Center for Biotechnology Information, National Library of Medicine, NIHhttp://www.sciencedirect.com/science/article/pii/S2949774425010386
spellingShingle Heidi Rehm
Julie Ratliff
Pamela Robertson
Danielle Azzariti
Larry Babb
Anabella Popiel
Audrey O’Neill
Vanessa Gitau
Ryan Webb
Eric Coleman
Kyle Ferriter
Terry O’Neill
Kuljeet Kaur
Shanmuga Chitipiralla
Chao Chen
Baoshan Gu
Jinpeng Yang
Steven Harrison
Erin Riggs
Marina DiStefano
Melissa Landrum
P630: ClinGen curation of ClinVar: Improving a critical community resource*
Genetics in Medicine Open
title P630: ClinGen curation of ClinVar: Improving a critical community resource*
title_full P630: ClinGen curation of ClinVar: Improving a critical community resource*
title_fullStr P630: ClinGen curation of ClinVar: Improving a critical community resource*
title_full_unstemmed P630: ClinGen curation of ClinVar: Improving a critical community resource*
title_short P630: ClinGen curation of ClinVar: Improving a critical community resource*
title_sort p630 clingen curation of clinvar improving a critical community resource
url http://www.sciencedirect.com/science/article/pii/S2949774425010386
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