American Society of Human Genetics (ASHG)​

Connect with GeneDx at ASHG 2026

October20–24, 2026 | Palais des congrès de Montréal | Booth #616

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Join GeneDx at the American Society of Human Genetics Annual Meeting to explore new research in genomic medicine. Our team is participating in 27 abstracts, including three platform presentations, three lightning talks, and a Reviewers’ Choice poster. Visit booth #616 to meet our team and learn about GeneDx Infinity™.

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Platform presentations

• Wed, Oct 21, 11:15–11:30 a.m. | Genomic Newborn Screening Across Diverse Genetic  Ancestries: GUARDIAN Screen-Positive Rates and Variant Findings Among  >19,000 Newborns
• Thu, Oct 22, 9:15–9:30 a.m. | Continuous clinical prioritization of copy number  variants (CNVs) through dynamic feature reconstruction
• Thu, Oct 22, 1:30–1:45 p.m. | Factors influencing molecular diagnostic yield in a  clinical autism exome sequencing cohort of over 100,000 individuals

Lightning talks and accompanying posters

• Wed, Oct 21, 10:30–10:33 a.m. | Variants in SFPQ cause a dominant neurodevelopmental  syndrome
• Wed, Oct 21, 10:35–10:38 a.m. | Analysis of 184,786 developmental disorder trios  identifies over a hundred novel DD-associated genes and candidate haplolethal  genes
• Wed, Oct 21, 10:39–10:42 a.m. | Real-world prevalence of clinically significant RNU4-2  variants and the value of genotype-first reanalysis

Reviewers’ Choice poster

• Fri, Oct 23, 2:30–4:30 p.m. | Large-Scale Gene-Based Burden Analysis Reveals the Genetic Architecture of Microcephaly in 25,000 Individuals

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More posters and collaborative research

Wednesday, October 21

• Assessing exome sequencing on the Axelios 1 platform for genetic disease research —poster time to confirm
• Proximity-informed structural variant detection with Illumina TruPath Genome — 2:30–4:30 p.m.
• Dissecting parental “relief” in SeqFirst-neo: a mixed-methods analysis — 2:30–4:30 p.m.

Thursday, October 22 | 4:15–6:15 p.m.

• Adigital platform for education, pre-test counseling, and consent for rapid genome sequencing
• Acomparison of rare variant candidate search space between long read and short read sequencing

Friday, October 23 | 2:30–4:30 p.m.

• Impact of Long-Read Genome Sequencing on Repeat Expansion Variant Prioritization in Clinical Diagnostics
• AI-assisted phenotype gestalts from 188,132 individuals inform diagnostic yield and reimbursement rate
• Leveraging longitudinal real-world data to characterize seizure phenotypes inCSNK2A1-related disorder

Additional posters | Presentation times to be confirmed

• Outcomes and impact of the GUARDIAN (Genomic Uniform-screening Against Rare Disease inAll Newborns) genomic newborn screening study
• From1 to X: The rare variant genetic architecture of autism
• Lifelong clinical, developmental, and pleiotropic impacts of autism-associated genes
• Improved sequencing of difficult regions reduces variant calling errors
• Dx Yield for Outpatient GS at Seattle Children’s Hospital
• Impact of Insurance Coverage for Outpatient GS at Seattle Children’s Hospital
• Genetic testing for cardiomyopathies in a clinical laboratory cohort of >20,000individuals provides novel insight
• Ultrarare Variants Reveal High-Risk Thoracic Aortic Disease Beyond Classical Mendelian Syndromes
• Resultsof assessment of infants with Long QT syndrome (LQTS) identified by the GUARDIAN gNBS study
• Budget Impact Analysis of Adopting First-Line Exome/Genome Sequencing Policy For Pediatric Commercially Insured Patients with Neurologic Disorders: A SAVES-Kids Study
• Towardsrapid HiFi long-read whole genome sequencing for time-critical rare disease applications
• HumanNOVA1 and NOVA2 variants disrupt neuronal RNA regulatory networks inneurodevelopmental disorders

Our team will be in the Exhibit & Poster Hall:

• Wednesday, October 21 | 9:30 a.m.–4:30 p.m.
• Thursday, October 22 | 9:30 a.m.–6:15 p.m.
• Friday, October 23| 9:30 a.m.–4:30 p.m.

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