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.

Feb 2015

Cutting the Gordian Helix — Regulating Genomic Testing in the Era of Precision Medicine
Lander, E. S. (2015). Cutting the Gordian helix—regulating genomic testing in the era of precision medicine. New England Journal of Medicine, 372(13), 1185-1186.

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.

Mar 2015

Harnessing big data for precision medicine: A panel of experts elucidates the data challenges and proposes key strategic decisions points
Barash, C. I., Elliston, K. O., Faucett, W. A., Hirsch, J., Naik, G., Rathjen, A., & Wood, G. (2015). Harnessing big data for precision medicine: A panel of experts elucidates the data challenges and proposes key strategic decisions points. Applied & Translational Genomics, 4, 10-13.

Apr 2015

Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations
Lerner-Ellis, J., Wang, M., White, S., & Lebo, M. S. (2015). Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations.Journal of medical genetics, jmedgenet-2014.

Mar 2015

The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine
Bowdin, S. C., Hayeems, R. Z., Monfared, N., Cohn, R. D., & Meyn, M. S. (2015). The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine. Clinical genetics.

Sep 2014

Organizing knowledge to enable personalization of medicine in cancer
Good, B. M., Ainscough, B. J., McMichael, J. F., Su, A. I., & Griffith, O. L. (2014). Organizing knowledge to enable personalization of medicine in cancer.Genome Biol, 15(8), 438.

Dec 2014

MYRIAD AFTER MYRIAD: THE PROPRIETARY DATA DILEMMA
Conley, J. M., Cook-Deegan, R., & Lázaro-Muñoz, G. (2014). Myriad after myriad: the proprietary data dilemma. North Carolina journal of law & technology, 15(4), 597.

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.

Mar 2014

Leading the way to genomic medicine
Manolio, T. A., & Green, E. D. (2014, March). Leading the way to genomic medicine. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 166, No. 1, pp. 1-7).

Sep 2014

Developing genomic knowledge bases and databases to support clinical management: current perspectives
Huser, V., Sincan, M., & Cimino, J. J. (2014). Developing genomic knowledge bases and databases to support clinical management: current perspectives.Pharmacogenomics and personalized medicine, 7, 275.

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.

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.