Events & Conferences

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 Reception 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. 

Mar 2017
ClinGen at ACMG 2017
Learn more about ClinGen at ACMG 2017!
Oct 2016
ClinGen Luncheon at ASHG 2016
Attending ASHG 2016 in Vancouver?  Join us for lunch!
[Complete Events & Conferences Archive]


Feb 2018
Points to consider for sharing variantlevel information from clinical genetic testing with ClinVar

Danielle R. Azzariti, Erin Rooney Riggs, Annie Niehaus, Laura Lyman Rodriguez, Erin M. Ramos, Brandi Kattman, Melissa J. Landrum, Christa L. Martin, and Heidi L. Rehm

Jan 2018
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.

Melissa A Kelly MS, Colleen Caleshu MS, Ana Morales MS, Jillian Buchan PhD, Zena Wolf PhD, Steven M Harrison PhD, Stuart Cook MD, Mitchell W Dillon MS, John Garcia PhD, Eden Haverfield PhD, Jan D H Jongbloed PhD, Daniela Macaya PhD, Arjun Manrai PhD, Kate Orland MS, Gabriele Richard MD, Katherine Spoonamore MS, Matthew Thomas MS, Kate Thomson BSc, Lisa M Vincent PhD, Roddy Walsh PhD, Hugh Watkins MD PhD, Nicola Whiffin PhD, Jodie Ingles PhD, J Peter van Tintelen MD PhD, Christopher Semsarian MBBS PhD, James S Ware PhD MRCP, Ray Hershberger MD & Birgit Funke PhD for the ClinGen Cardiovascular Clinical Domain Working Group

Jan 2018
Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

Sean V Tavtigian PhD, Marc S Greenblatt MD, PhD, Steven M Harrison PhD, Robert L Nussbaum MD, Snehit A Prabhu PhD, Kenneth M Boucher PhD & Leslie G Biesecker MD on behalf of the ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI)

Jun 2017
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.

Strande, N. T., Riggs, E. R., Buchanan, A. H., Ceyhan-Birsoy, O., DiStefano, M., Dwight, S. S., ... & Wright, M. W. (2017). Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource. The American Journal of Human Genetics.

Mar 2017
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM, Dolinsky JS, Knight Johnson AE, Pesaran T, Azzariti DR, Bale S, Chao EC, Das S, Vincent L, Rehm HL.
Jan 2017
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants
Ronak Y. Patel , Neethu Shah, Andrew R. Jackson, Rajarshi Ghosh, Piotr Pawliczek, Sameer Paithankar, Aaron Baker , Kevin Riehle, Hailin Chen, Sofia Milosavljevic , Chris Bizon, Shawn Rynearson, Tristan Nelson, Gail P. Jarvik, Heidi L. Rehm, Steven M. Harrison, Danielle Azzariti, Bradford Powell, Larry Babb, Sharon E. Plon, Aleksandar Milosavljevic and on behalf of the ClinGen Resource
[Complete Publications Archive]

ClinGen In The News

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.

Jul 2017
ClinGen Lists Labs Meeting Requirements for Quality Data Sharing on Genetic Variants

GenomeWeb describes ClinGen's published  list of labs that meet certain requirements ensuring the quality of data they've submitted within a public database.

Mar 2016
Mother's Negligence Suit Against Quest's Athena Could Broadly Impact Genetic Testing Labs
GenomeWeb reports on a suit against Quest Diagnostics' Athena, and mentions the role ClinGen is playing in developing a "shared knowledge-base of genes and genetic variants important to human health."
Jan 2016
GenomeConnect: Help advance research by donating your genetic information
This Genome Magazine article gives a brief overview of GenomeConnect and summarizes how interested individuals can participate.
Jun 2015
ClinGen and Lessons for the Precision Medicine Initiative
A Bio-IT World article and interview with Heidi Rehm, with an in-depth focus on ClinGen and lessons for the Precision Medicine Initiatve
[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]