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NEWS

Science, Stories & the Future of Genomics

For clinicians, patients, and the curious — insights on genomics, hereditary conditions, and the stories that remind us why this work matters.

Articles Tagged: Novel Genes

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October 10, 2024

Pioneering New Research to Support Rare Disease Patients and Families

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Elizabeth Chao, Laboratory Director, Ambry Genetics
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
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July 3, 2024

TCLR: Revisiting an Innovative Method for Mismatch Repair Variant Classification

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Jessica Grzybowski, Lead Genetic Counselor, Reporting – RNA, Ambry Genetics
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
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February 29, 2024

10 Ways Genetic Laboratories Can Support the Rare Disease Community

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Kelly D.F. Hagman, VP, Medical Affairs
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
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February 26, 2024

From Awareness to Action: Supporting Rare Disease Today and Everyday

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Catherine Schultz, Genetic Specialist II
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
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October 17, 2023

Understanding Gene-Disease Validity in Breast Cancer: The Power of Evidence

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Jessica Grzybowski, Lead Genetic Counselor, Reporting – RNA, Ambry Genetics
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
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March 2, 2023

Meet the Gene Team: Bess Wayburn, PhD, CGC, presents the Gene of the Month, SPTBN1

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Jodi Tahsler, Content Writer
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