Events & Conferences

May 2019
Curating the Clinical Genome 2019

Learn more about the Curating the Clinical Genome 2019 meeting in Washington, DC.

Nov 2018
ClinGen at NSGC 2018

Learn more about ClinGen at NSGC 2018 in Atlanta, GA.

Oct 2018
ClinGen at ASHG 2018

Learn more about ClinGen at ASHG 2018 in San Diego, CA.

May 2018
Curating the Clinical Genome Meeting 2018

The 2018 Curating the Clinical Genome meeting, co-hosted by ClinGen and DECIPHER will take place in Cambridge, UK.

Apr 2018
ClinGen at ACMG 2018

Join us at ACMG 2018 to hear updates from ClinGen!

Oct 2017
ClinGen Luncheon at ASHG 2017

Attending ASHG 2017 in Orlando? Join us for lunch!

[Complete Events & Conferences Archive]


Publications

Aug 2018
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Renard, PhD, Catherine Francis, MD, PhD, Rajarshi Ghosh, PhD, Alan F. Scott, PhD, P. Dane Witmer, PhD, Lesley C. Adès, MD, Gregor U. Andelfinger, MD, PhD, Pauline Arnaud, PhD, Catherine Boileau, PhD, Bert L. Callewaert, MD, PhD, Dongchuan Guo, PhD, Nadine Hanna, PhD, Mark E. Lindsay, MD, PhD, Hiroko Morisaki, MD, PhD, Takayuki Morisaki, MD, PhD, Nicholas Pachter, MD, PhD, Leema Robert, MD, Lut Van Laer, PhD, Harry C. Dietz, MD, PhD, Bart L. Loeys, MD, PhD, Dianna M. Milewicz, MD, PhD, Julie De Backer, MD, PhD

Jul 2018
Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs

Williams JL, Chung WK, Fedotov A, Kiryluk K, Weng C, Connolly JJ, Harr M, Hakonarson H, Leppig KA, Larson EB, Jarvik GP, Veenstra DL, Hoell C, Smith ME, Holm IA, Peterson JF, Williams MS.

Jul 2018
Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

Ormond KE, Hallquist MLG, Buchanan AH, Dondanville D, Cho MK, Smith M, Roche M, Brothers KB, Coughlin CR 2nd, Hercher L, Hudgins L, Jamal S, Levy HP, Raskin M, Stosic M, Uhlmann W, Wain KE, Currey E, Faucett WA. 

Jun 2018
Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

Hosseini SM, Kim R, Udupa S, Costain G, Jobling R, Liston E, Jamal SM, Szybowska M, Morel CF, Bowdin S, Garcia J, Care M, Sturm AC, Novelli V, Ackerman MJ, Ware JS, Hershberger RE, Wilde AAM, Gollob MH; NIH-Clinical Genome Resource Consortium.

Jun 2018
Development of a Consent Resource for Genomic Data Sharing in the Clinical Setting

Riggs ER, Azzariti DR, Niehaus A, Goehringer SR, Ramos EM, Rodriguez LL, Knoppers B, Rehm HL, Martin CL; Clinical Genome Resource Education Working Group.

May 2018
ClinVar Miner: Demonstrating Utility of a Web‐based Tool for Viewing and Filtering ClinVar Data

Alex Henrie, Sarah E. Hemphill, Nicole Ruiz‐Schultz, Brandon Cushman, Marina T. DiStefano, Danielle Azzariti, Steven M. Harrison, Heidi L. Rehm, Karen Eilbeck

[Complete Publications Archive]


ClinGen In The News

Oct 2018
Putting variants into practice: ClinGen, ClinVar, and the challenge of interpreting genetics in the clinic

While efforts to standardize how genetic variants are interpreted for patient care have come a long way in the last five years, they still have far to go.

Oct 2018
NIH-supported projects remove major obstacles standing in the way of genomic medicine

ClinGen and ClinVar address major obstacles to genomic medicine.

Oct 2018
Special issue of journal highlights ClinGen program

Press release from Baylor College of Medicine on the special issue of Human Mutation highlighting ClinGen & ClinVar.

Oct 2018
Human Mutation Special Issue Features ClinGen, a GA4GH Driver Project

News from the Global Alliance for Genomics & Health on the Human Mutation Special Issue 

Oct 2018
Publications Highlight Findings Emerging From ClinGen Program

GenomeWeb article on the Human Mutation Special Issue

Jul 2018
Clinical Genome Workgroup Offers Guidance to Clinicians With Minimal Backgrounds in Genetics

Cancer Network describes the work of the ClinGen Consent and Disclosure Recommendations (CADRe) Workgroup on developing tools to guide clinicians with minimal genetics background.

[Complete ClinGen In The News Archive]


Publications mentioning ClinGen

Jul 2017
A new era in the interpretation of human genomic variation

Rehm, Heidi L. “A New Era in the Interpretation of Human Genomic Variation.”GENETICS in MEDICINE, 13 July 2017, doi:10.1038/gim.2017.90.

Nov 2015
Big data: The power of petabytes
Eisenstein, M. (2015). Big data: The power of petabytes. Nature, 527(7576), S2-S4.
Oct 2015
ClinGen and Genetic Testing
Karam, R., Pesaran, T., Chao, E., Easton, D. F., Pharoah, P. D. P., & Antoniou, A. C. (2015). ClinGen and Genetic Testing. The New England journal of medicine, 373(14), 1376-1377.
Aug 2015
Current Tools for Interpretation of Genomic Copy Number Variants
Noor, A., & Stavropoulos, D. J. Current Tools for Interpretation of Genomic Copy Number Variants. Current Genetic Medicine Reports, 1-7.
Jul 2015
Standardizing Variant Interpretation in Genomic Sequencing: Implications for Genetic Counseling Practice
Ormond, K. E., Rashkin, M., & Faucett, W. A. (2015). Standardizing Variant Interpretation in Genomic Sequencing: Implications for Genetic Counseling Practice. Current Genetic Medicine Reports, 3(3), 137-142.
Jun 2015
The FDA and Genomic Tests — Getting Regulation Right
Evans, B. J., Burke, W., & Jarvik, G. P. (2015). The FDA and genomic tests—getting regulation right. New England Journal of Medicine.
[Complete Publications mentioning ClinGen Archive]