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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: Genetic Testing Accuracy

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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 31, 2024

The Importance of TCLR in Mismatch Repair Variant Classification: A Genetic Counselor’s Perspective

Alyssa Valentine, MS, CGC, shares insights into a patient case where the incorporation of TCLR resulted in a major impact on MMR gene variant classification.
Gene Mutation
Genetic Testing
Genetic Testing Accuracy
VUS
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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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July 2, 2024

The Evolving Landscape of Gene-Disease Validity Curation and Its Impact on Clinical Utility

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Jennifer Herrera-Mullar, Sr. Genetic Counselor, Cancer Reporting
Understanding the relationship between genes and diseases is crucial for improving patient care. Gene-Disease Validity (GDV) scoring techniques continue to evolve
Clinical Research
Genetic Testing
Genetic Testing Accuracy
Multigene Panel Testing
Next Generation Sequencing
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May 2, 2024

Gene-Disease Validity: Developing and Applying a Rigorous Framework in a Diagnostic Laboratory Setting

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Meghan Towne, Genetic Counselor, Reporting- Clinical Genomics
The Patient for Life Program helps provide accurate, up-to-date and accessible genetic testing options.
Genetic Testing Accuracy
Tag
VUS
Whole Exome Sequencing
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April 30, 2024

Advancing Equity: TriHealth’s Experience Leveraging CARE to Standardize Cancer Risk Assessment

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Chelsea Menke, Genetic Counselor
Chelsea Menke, MS, CGC, discusses addressing health inequalities at TriHealth gynecology clinic with the Ambry CARE Program.
Genetic Discrimination
Genetic Testing
Genetic Testing Accuracy
OBGYN