Events & Conferences

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!

Jun 2017
Curating the Clinical Genome Meeting 2017

The 2017 Curating the Clinical Genome meeting, co-hosted by ClinGen and DECIPHER will take place in Washington, DC. 

[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

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.

Jul 2018
Association for Creatine Deficiencies Expands Patient Insights Network to Enable Data Sharing With ClinVar

The Association for Creatine Deficiencies (ACD) is working with Geisinger, a National Institutes of Health (NIH) Clinical Genome Resource (ClinGen) grantee to share genetic and health information from patients affected by creatine deficiencies. 

Jun 2018
ClinGen Expert Panel Evaluates Validity of Genes Reported to be Associated with Brugada Syndrome

ClinGen (Clinical Genome Resource) Expert Panel Evaluates Validity of Genes Reported to be Associated with Brugada Syndrome: One Gene Reaffirmed; 20 Gene Associations Disputed.

Apr 2018
ASH Announces Partnership with the University of North Carolina, a ClinGen Grantee, to Curate Genomic Data for Blood Disease Research

The American Society of Hematology (ASH) today announced a partnership with the University of North Carolina at Chapel Hill (UNC), a National Institutes of Health (NIH) Clinical Genome Resource (ClinGen) grantee, to develop a broad and accessible compendium of genomic data aimed at improving the diagnosis of some blood cancers and disorders.

Jan 2018
ClinGen Implementing Strategies to Resolve Variant Classification Conflicts in ClinVar

GenomeWeb describes Heidi Rehm's update on ClinGen's strategies to resolve variant classifications conflicts in ClinVar at a US Food and Drug Administration public workshop this week focused on variant classification and interpretation efforts within precision oncology.

Oct 2017
GA4GH strikes formal collaborations with 15 international genomic data initiatives

ClinGen is named as one of the 15 driver projects of the Global Alliance for Genomics and Health.

[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]