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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: Clinical Research

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December 30, 2025

Study Finds One in Four People With Sarcoma Carry a Pathogenic Variant: Why Germline Testing Matters

Staff Portraits. Huma Rana, M.D.
Huma Rana, Instructor in Medicine
Huma Q Rana (Dana-Farber Cancer institute) explains a Journal of the National Cancer Institute study of whether germline pathogenic variants were more frequent in people…
Clinical Research
Genetic Testing
sarcoma
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December 17, 2025

SMARCA4 Pathogenic Variants: Gynecological Cancer Histories from a Laboratory Tested Cohort

Dr. Adela Rodríguez-Hernández (Dana-Farber Cancer Institute) shares results from a study in Gynecologic Oncology that better characterized cancer patterns among individuals with SMARCA4 gPVs, addressing…
Clinical Research
Genetic Testing
OBGYN
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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
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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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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