Events & Conferences

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!
Mar 2016
ClinGen Reception at ACMG 2016
Learn more about ClinGen at ACMG 2016!
[Complete Events & Conferences Archive]


Publications

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
Nov 2016
Somatic cancer variant curation and harmonization through consensus minimum variant level data.
Ritter DI, Roychowdhury S, Roy A, Rao S, Landrum MJ, Sonkin D, Shekar M, Davis CF, Hart RK, Micheel C, Weaver M, Van Allen EM, Parsons DW, McLeod HL, Watson MS, Plon SE, Kulkarni S, Madhavan S; ClinGen Somatic Cancer Working Group.
Aug 2016
Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard

Heale, B. S. E., et al. “Integrating Genomic Resources with Electronic Health Records Using the HL7 Infobutton Standard.” Applied Clinical Informatics, vol. 7, no. 3, 31 Aug. 2016, pp. 817–831., doi:10.4338/aci-2016-04-ra-0058.

[Complete Publications Archive]


ClinGen In The News

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
May 2015
NHGRI News Feature: ClinGen setting standards for when genes and their variants matter in disease
Highlighting ClinGen's work to establish rules and infrastructure, pushing genomic medicine closer to reality
Nov 2014
GenomeConnect Profiled in ACMG Newsletter
GenomeConnect, the ClinGen patient portal, was profiled in the November 2014 issue of ACMG in Action.
Aug 2014
An Overview of the Clinical Genome Resource (ClinGen) and the ClinVar Database
An overview of ClinGen and ClinVar by Heidi Rehm for the Knome blog.
[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]