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Performance of preliminary SDHB specifications for ACMG/AMP sequence variant classification v3: A pilot assessment

Date:
Wednesday, Oct 21, 2026 2:30pm – 4:30pm

Conference:
ASHG 2026

Authors:
Lauren Desrosiers-Battu (Baylor College of Medicine)

Abstract
Optimizing clinical next-generation sequencing workflows through evidence-based expansion of statistical confirmation criteria

Date:
Wednesday, Oct 21, 2026 2:30pm – 4:30pm

Conference:
ASHG 2026

Authors:
Jared Evans

Abstract Poster
MAVE Progress Report, How Ambry Genetics Validates and Deploys High-Throughput Functional Assays

Date:
Wednesday, Oct 21, 2026 2:30pm – 4:30pm

Conference:
ASHG 2026

Authors:
Daniel Zimmerman

Abstract Poster
The ATM Splice-ome: Charting the multifaceted splicing landscape of ATM

Date:
Wednesday, Oct 21, 2026 2:30pm – 4:30pm

Conference:
ASHG 2026

Authors:
Laura Hudish, PhD

Abstract Poster
Evaluating Secondary Findings in Prenatal Exome Sequencing: A Study of Uptake and Yield for ACMG and Childhood Onset Disorder Results

Date:
Wednesday, Oct 21, 2026 2:30pm – 4:30pm

Conference:
ASHG 2026

Authors:
Brooklynn Gross (Ambry Genetics)

Abstract Poster
Deploying Long-Read Sequencing to Bridge Diagnostic and Equity Gaps in Rare Disease

Date:
Wednesday, Oct 21, 2026 1:35pm – 1:38pm

Conference:
ASHG 2026

Authors:
Emmanuele Delot (UC Irvine)

Abstract
Phenotype expansion of the ERF Gene

Session:
#287

Date:
Thursday, Oct 15, 2026 5:30pm – 7:00pm

Conference:
CNS 2026

Authors:
Ambry Genetics, Connolly Steigerwald
Size and breakpoint matter: clinical heterogeneity in males with terminal MECP2 duplications

Session:
#232

Date:
Thursday, Oct 15, 2026 12:30pm – 1:45pm

Conference:
CNS 2026

Authors:
Davut Pehlivan, Ambry Genetics
Germline testing in Asian American and Pacific Islander women with breast cancer

Oncology

Date:
Monday, Jun 1, 2026 1:30pm – 4:30pm

Conference:
ASCO 2026

Authors:
Jennifer Tseng, John Michael O Ranola, Kristin Kohler, Magan Trottier

Collaborators:

City of Hope

Abstract Poster
Actionable germline findings in endometrial cancer from a large multigene panel tested cohort

Oncology

Session:
#572

Date:
Monday, Jun 1, 2026 1:30pm – 4:30pm

Conference:
ASCO 2026

Authors:
Adela Rodriguez-Hernandez, Brittany L. Bychkovsky, Carolyn Horton, Huma Rana, Jessica D. St. Laurent, Judy E. Garber, Linda M. Polfus, Magan Trottier, Miki Horiguchi

Collaborators:

Dana Farber Cancer Institute
Harvard Medical School
Massachusetts General Hospital

Abstract Poster

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Performance of preliminary SDHB specifications for ACMG/AMP sequence variant classification v3: A pilot assessment

Optimizing clinical next-generation sequencing workflows through evidence-based expansion of statistical confirmation criteria

MAVE Progress Report, How Ambry Genetics Validates and Deploys High-Throughput Functional Assays

The ATM Splice-ome: Charting the multifaceted splicing landscape of ATM

Evaluating Secondary Findings in Prenatal Exome Sequencing: A Study of Uptake and Yield for ACMG and Childhood Onset Disorder Results

Deploying Long-Read Sequencing to Bridge Diagnostic and Equity Gaps in Rare Disease

Phenotype expansion of the ERF Gene

Size and breakpoint matter: clinical heterogeneity in males with terminal MECP2 duplications

Germline testing in Asian American and Pacific Islander women with breast cancer

Actionable germline findings in endometrial cancer from a large multigene panel tested cohort

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