Ambry Genetics at ASHG 2026
Oct 20–24, 2026 Montréal, Canada ~7.5k attendees Website
Ambry Genetics brings 12 presentations to ASHG 2026 in Montréal, and exhibits at Booth 1201. Its program centres on rare-disease diagnosis, hereditary cancer, and computational approaches to clinical genetics at this meeting. Its presentations explore long-read sequencing with methylation analysis in the UCI-GREGoR rare disease cohort and RNA testing to clarify uncertain exome variants.
| Organization | ASHG 2026 Attendance |
|---|---|
Ambry Genetics Aliso Viejo, California | 2 Scientists · 1 Variant Assessment Scientist · 1 Bioinformatics Scientist and Engineer · 1 Genetic Counselor · 2 other presenters |
Clinical genetic testing laboratory serving healthcare providers with hereditary cancer, rare disease, and specialty genomic testing.
| 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 BioinformaticsComputational toolsDiagnosticsEpigenetics Poster Wed Oct 21 2:30 pm Multi-Scale Mechanistic Interpretability of Genomic Foundation Models via Layer-Fused Sparse Autoencoders Enables Scalable Non-Coding VUS Resolution GenomicsIdentification of disease genesVariant interpretation Poster Wed Oct 21 2:30 pm Solving Lynch syndrome missing heritability by integrating long-read DNA sequencing and short-read RNA sequencing Cancer syndromesHeritabilityLong-read sequencingMethylation Poster Wed Oct 21 2:30 pm MAVE Progress Report, Clinical Implementation of High-Throughput Functional Assays 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 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 Clinical geneticsClinical testingExome/genome sequencingGenetic counseling Poster Wed Oct 21 2:30 pm The ATM Splice-ome: Charting the multifaceted splicing landscape of ATM 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 Rare variantsClinical testingLong-read sequencingLaboratory genetics and genomics 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 CohortBioinformaticsComputational toolsDiagnosticsEpigenetics Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Piloting the Forthcoming ACMG/AMP/CAP/ClinGen Standards for Sequence Variant ClassificationClinical testingGenetic testingLaboratory genetics and genomicsVariant interpretation 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 AtaxiaLong-read sequencingTriplet and other repeats Poster Fri Oct 23 2:30 pm Into the Abyss: Mapping the Landscape of Deep Intronic Pathogenicity CancerVariant interpretationClinical geneticsLaboratory genetics and genomics |
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