ASHG 2026 · Diagnostics & clinical labs

Ambry Genetics at ASHG 2026

Aliso Viejo, California

Ambry Genetics at ASHG 2026 in Montréal: 11 presentations (9 posters, 1 lightning talk, 1 platform talk); Booth 1201.

11
presentations on the program
2
Reviewers’ Choice abstracts
1201
exhibit booth

Explore everyone at ASHG 2026 →

OrganizationASHG 2026 Attendance
Ambry Genetics
Aliso Viejo, California
2 Scientists · 1 Variant Assessment Scientist · 1 Bioinformatics Scientist and Engineer · 1 Genetic Counselor · 1 other presenter
Subsidiary
Clinical genetic testing laboratory serving healthcare providers with hereditary cancer, rare disease, and specialty genomic testing.
A study found Ambry's ExomeReveal RNA testing improves diagnostic clarity for uncertain exome variants, useful evidence for their pitch.
A study found Ambry's ExomeReveal RNA testing improves diagnostic clarity for uncertain exome variants, useful evidence for their pitch.
2026-06 · source
Ambry's CARE Program won a 2026 MedTech Breakthrough award for best overall health informatics solution.
2026-05 · source
Ambry's MAVE research is supporting thousands of patient variant reclassifications and expanding coverage to new genes.
2026-02 · source
Source: company newsroom
Booth
Exhibiting at Booth 1201
Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm
Talk
Wed Oct 21
2:03 pm
Concurrent long-read genome sequencing with methylation pattern analysis enhances diagnostic yields in the UCI-GREGoR rare disease cohort
Advances in Clinical Genomics in the Era of AI, Long-Read Sequencing, Precision Medicine, and Genomic Care Delivery
BioinformaticsComputational toolsDiagnosticsEpigenetics
Poster
Wed Oct 21
2:30 pm
Solving Lynch syndrome missing heritability by integrating long-read DNA sequencing and short-read RNA sequencing
Cancer
Cancer syndromesHeritabilityLong-read sequencingMethylation
Poster
Wed Oct 21
2:30 pm
MAVE Progress Report, Clinical Implementation of High-Throughput Functional Assays
Laboratory Genetics and Genomics
CancerGenetic testingRare variantsVariant interpretation
Poster
Wed Oct 21
2:30 pm
Optimizing clinical next-generation sequencing workflows through evidence-based expansion of statistical confirmation criteria
Laboratory Genetics and Genomics
Exome/genome sequencingTargeted sequencingBioinformaticsClinical genetics
Poster
Wed Oct 21
2:30 pm
Evaluating Secondary Findings in Prenatal Exome Sequencing: A Study of Uptake and Yield for ACMG and Childhood Onset Disorder Results
Prenatal, Perinatal, Reproductive, and Developmental Genetics
Clinical geneticsClinical testingExome/genome sequencingGenetic counseling
Poster
Wed Oct 21
2:30 pm
The ATM Splice-ome: Charting the multifaceted splicing landscape of ATM
Laboratory Genetics and Genomics
CancerDiagnosticsGene regulationSplicing mechanisms
Talk
Thu Oct 22
2:00 pm
HiFi long read genome sequencing after negative clinical exome sequencing in a consecutive cohort increases diagnostic yields
Elucidating Structural Variation in Human Health and Disease
Rare variantsClinical testingLong-read sequencingLaboratory genetics and genomics
Poster
Thu Oct 22
4:15 pm
Long-Read Genome Sequencing Enables Detection of Pathogenic Tandem Repeat Expansion in the UCI-GREGoR Rare Disease Cohort
Complex Traits and Polygenic Disorders
AtaxiaLong-read sequencingTriplet and other repeats
Poster
Thu Oct 22
4:15 pm
★ Reviewers’ Choice
Concurrent Long-Read Genome Sequencing with Methylation Pattern Analysis Enhances Diagnostic Yields in the UCI-GREGoR Rare Disease Cohort
Laboratory Genetics and Genomics
BioinformaticsComputational toolsDiagnosticsEpigenetics
Poster
Thu Oct 22
4:15 pm
★ Reviewers’ Choice
Piloting the Forthcoming ACMG/AMP/CAP/ClinGen Standards for Sequence Variant Classification
Laboratory Genetics and Genomics
Collaborators: James Cook University, University of North Carolina at Chapel Hill +8 more
Clinical testingGenetic testingLaboratory genetics and genomicsVariant interpretation
Poster
Fri Oct 23
2:30 pm
Into the Abyss: Mapping the Landscape of Deep Intronic Pathogenicity
Cancer
CancerVariant interpretationClinical geneticsLaboratory genetics and genomics

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