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Articles Tagged: Scientific Research
August 26, 2025
From Research to Reclass: 4,200+ Patients Impacted…and Counting!
The Ambry Classifi program proactively reclassifies BRCA2 variants as reported in the groundbreaking Nature study, Functional Evaluation and Clinical Classification of BRCA2 Variants.
BRCA2
Classifi
Clinical Research
Scientific Research
October 10, 2024
Pioneering New Research to Support Rare Disease Patients and Families
Dr. Elizabeth Chao explains how Ambry’s collaboration with PacBio to participate in the GREGoR Consortium to unlock the mysteries of the genome.
Clinical Research
Genetic Testing
Genetic Testing Accuracy
Next Generation Sequencing
Novel Genes
Scientific Research
February 10, 2023
Like Mother, Like Daughter: Tara and Elia Namey Advance Women in STEM Leadership
For International Day of Women and Girls in Science, Ambry shares the story of one of the women who leads the way in genetics at…
Reduce Risks
Risk Factors
Scientific Research
Social Support
October 13, 2017
Ambry’s NSGC Research Paves the Way for Future Scientific Discovery, Clinical Practice Enhancements
Throughout her tenure at Ambry, Zoe Powis, MS CGC, Supervisor of Clinical Genomics Research, has contributed much to the broader body of knowledge about the…
Genetic Testing
NSGC 2017
Scientific Research
August 29, 2017
Ambry’s Agenda for an Influential NSGC 2017
August is quickly wrapping up and all of us at Ambry are preparing for the 36th Annual National Society of Genetic Counselors (NSGC) Conference.
Conferences
NSGC 2017
Scientific Research
June 7, 2017
Improve Patient Care by Reducing Ambiguity in Gene-Disease Relationships
Ambry’s latest research formalizes a methodology for determining if a gene-disease relationship is clinically valid, reducing ambiguity and improving test results.
Mendelian diseases
Novel Genes
Scientific Research
Test Results
VUS
Whole Exome Sequencing
