ClinGen's GenomeConnect registry enables patient‐centered data sharing-Reference-Cited by-同舟云学术

ClinGen's GenomeConnect registry enables patient‐centered data sharing

Published:2018-10-11 Issue:11 Volume:39 Page:1668-1676
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Savatt Juliann M.¹^ORCID,Azzariti Danielle R.²^ORCID,Faucett W. Andrew¹³^ORCID,Harrison Steven²⁴^ORCID,Hart Jennifer⁵,Kattman Brandi⁵,Landrum Melissa J.⁵^ORCID,Ledbetter David H.¹³^ORCID,Miller Vanessa Rangel⁶,Palen Emily¹,Rehm Heidi L.²⁴⁷⁸^ORCID,Rhode Jud⁶,Turner Stefanie¹⁹,Vidal Jo Anne⁶,Wain Karen E.¹^ORCID,Riggs Erin Rooney¹^ORCID,Martin Christa Lese¹³^ORCID

Affiliation:

1. Autism & Developmental Medicine Institute, Geisinger Lewisburg Pennsylvania

2. Laboratory for Molecular MedicinePartners Personalized Medicine Boston Massachusetts

3. Genomic Medicine Institute, Geisinger Danville Pennsylvania

4. Center for Genomic MedicineMassachusetts General Hospital Boston Massachusetts

5. National Center for Biotechnology Information Bethesda Maryland

6. Invitae San Francisco California

7. The Broad Institute of Harvard and MIT Cambridge Massachusetts

8. Harvard Medical School Boston Massachusetts

9. Division of Genetic, Genomic, and Metabolic DisordersChildren's Hospital of Michigan Detroit Michigan

Funder

National Institutes of Health

National Human Genome Research Institute

U.S. National Library of Medicine

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23633

Reference21 articles.

1. Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics

2. American Medical Association.(2013).Genome analysis and variant identification policy D‐460.971.

3. PLOS Genetics Data Sharing Policy: In Pursuit of Functional Utility

4. Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

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

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