Articles Tagged: Novel Genes
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
July 3, 2024
TCLR: Revisiting an Innovative Method for Mismatch Repair Variant Classification
Jessie Gryzbowski describes Ambry’s novel method to accurately classify alterations in mismatch repair (MMR) genes by incorporating a tumor characteristic likelihood ratio (TCLR) into the…
Clinical Research
Genetic Testing Accuracy
Lynch syndrome
Novel Genes
February 29, 2024
10 Ways Genetic Laboratories Can Support the Rare Disease Community
A top-ten list of ways laboratories can contribute to progress in identifying and treating rare disease for the more than 300 million people suffering from…
Advocacy Group
Novel Genes
Patient Advocate
VUS
Whole Exome Sequencing
February 26, 2024
From Awareness to Action: Supporting Rare Disease Today and Everyday
For Rare Disease Day, a list of patient advocacy groups dedicated to raising awareness about rare diseases and the millions of individuals around the world…
Advocacy Group
Novel Genes
Patient Advocate
VUS
Whole Exome Sequencing
October 17, 2023
Understanding Gene-Disease Validity in Breast Cancer: The Power of Evidence
An overview of gene-disease validity in the context of breast cancer, which affects approximately 1 in every 8 women.
Breast Cancer
Breast Cancer Awareness
Clinical Research
Genetic Testing
Novel Genes
March 2, 2023
Meet the Gene Team: Bess Wayburn, PhD, CGC, presents the Gene of the Month, SPTBN1
Meet the Gene team highlights one member of the Ambry team each month and they then introduce a newly categorized gene and explain how the…
Genetic Counselors
Genetic Testing
Novel Genes
Whole Exome Sequencing