Scientific Innovation and Excellence
Learn how Ambry’s rigorous standards in genomic science drive the field forward, collaboratively and collectively.
Technology, Innovation, and Contributions
See the Difference with Ambry’s Variant Assessment Team
See the Difference with Ambry’s Variant Assessment Team
Proactive Variant Reclassification in Hereditary Cancer Genes
Ambry’s Classifi program represents a commitment to our clients to provide them with the highest quality test results, but Ambry’s no-stone-left-unturned commitment is not new. In fact, it is the reason so many people have trusted us for 25 years. Our Classifi program is simply putting a name to the layers of our expertise, our process and our use of cutting-edge technology to show our clients how we’ve always been different.
Leading the Way in Gene Classification
Bess Wayburn, PhD on Leading the Way in Gene Classification
Innovation in Variant Classification
Rhonda Lassiter, PhD and Kelly McGoldrick, PhD on Innovation in Variant Classification
Clinical Validity Scoring at Ambry Genetics
Ambry’s Erica Smith, Clinical Genomics Scientist, and Kelly Hagman, Managing Director, Clinical Genomics, discuss the standardized scoring system that Ambry has developed.
Keeping score of mutations to link genes to disease
dx.doi.org/10.1002/humu.23183
Smith et al. “Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.” Human Mutation (2017). doi: 10.1002/humu.23183
Video produced by researchsquare.com
Smith et al. “Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.” Human Mutation (2017). doi: 10.1002/humu.23183
Video produced by researchsquare.com
Will RNA testing be the next Del/Dup for Clinical Genetics?
Will RNA testing be the next Del/Dup for Clinical Genetics?
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