ClinGen advancing genomic data‐sharing standards as a GA4GH driver project-Reference-Cited by-同舟云学术

ClinGen advancing genomic data‐sharing standards as a GA4GH driver project

Published:2018-10-11 Issue:11 Volume:39 Page:1686-1689
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Dolman Lena¹^ORCID,Page Angela²^ORCID,Babb Lawrence³,Freimuth Robert R.⁴,Arachchi Harindra²⁵,Bizon Chris⁶,Brush Matthew⁷^ORCID,Fiume Marc¹⁸,Haendel Melissa⁷⁹^ORCID,Hansen David P.¹⁰,Milosavljevic Aleksandar¹¹,Patel Ronak Y.¹¹^ORCID,Pawliczek Piotr¹¹,Yates Andrew D.¹²^ORCID,Rehm Heidi L.²⁵¹³^ORCID

Affiliation:

1. Global Alliance for Genomics and Health HeadquartersOntario Institute for Cancer Research Toronto Ontario Canada

2. Broad Institute of MIT and Harvard Cambridge Massachusetts

3. Sunquest Information Systems Boston Massachusetts

4. Department of Health Sciences Research, Center for Individualized MedicineMayo Clinic Rochester Minnesota

5. Center for Mendelian GenomicsBroad Institute of MIT and Harvard Cambridge Massachusetts

6. Renaissance Computing InstituteUniversity of North Carolina Chapel Hill North Carolina

7. Oregon Clinical & Translational Research InstituteOregon Health & Science University Portland Oregon

8. DNAstack Toronto Ontario Canada

9. Linus Pauling InstituteOregon State University Corvallis Oregon

10. Australian e‐Health Research CentreCSIRO, UQ Health Sciences Building Herston Qld Australia

11. Department of Molecular and Human GeneticsBaylor College of Medicine Houston Texas

12. European Molecular Biology LaboratoryEuropean Bioinformatics InstituteWellcome Genome Campus Hinxton Cambridge United Kingdom

13. Center for Genomic MedicineMassachusetts General Hospital Boston Massachusetts

Funder

Broad Institute

Genome Canada

Government of Canada

Ontario Institute for Cancer Research

National Institutes of Health

National Cancer Institute

National Heart, Lung, and Blood Institute

NIH Office of the Director

Canadian Institutes of Health Research

National Human Genome Research Institute

Wellcome Trust

European Molecular Biology Laboratory

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23625

Reference12 articles.

1. Points to consider for sharing variant-level information from clinical genetic testing with ClinVar

2. A New Initiative on Precision Medicine

3. Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?

4. GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge

5. Framework for responsible sharing of genomic and health-related data

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Generating Clinical-Grade Gene–Disease Validity Classifications Through the ClinGen Data Platforms;Annual Review of Biomedical Data Science;2024-08-23

2. Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelopmental disorders;Molecular Genetics & Genomic Medicine;2023-07-24

3. Introducing Edna: A trainee chatbot designed to support communication about additional (secondary) genomic findings;Patient Education and Counseling;2021-04

4. Evidence-Based Network Approach to Recommending Targeted Cancer Therapies;JCO Clinical Cancer Informatics;2020-09

5. Progress, Challenges, and Surprises in Annotating the Human Genome;Annual Review of Genomics and Human Genetics;2020-08-31