GeneDx, the leader in rare disease diagnosis and improving health through the power of genomic data, today announced 27 accepted scientific abstracts at the American Society of Human Genetics (ASHG) 2026 Annual Meeting, highlighting how exome and genome sequencing are advancing scientific discovery, earlier diagnosis and more precise care.
GeneDx research at ASHG 2026 highlights five areas:
- Scaling genomic interpretation with AI and machine learning: A GeneDx-led platform presentation explores machine learning to prioritize relevant copy number variants (CNVs), reflecting the company’s human-first, human-last approach to leveraging AI decision support tools in exome and genome sequencing analysis.
- Advancing exome and genome sequencing as standard of care: Research from more than 100,000 individuals with autism examines factors influencing molecular diagnostic yield, adding evidence to support broad genomic testing for complex neurodevelopmental conditions.
- Translating clinical data into actionable insights: Studies explore genotype-first reanalysis, emerging genotype-phenotype associations, rare variant detection and the health-economic value of first-line exome and genome sequencing.
- Accelerating gene discovery: Nine abstracts using GeneDx Infinity™, GeneMatcher and global research collaborations to identify novel disease-associated genes and expand understanding of developmental and neurodevelopmental disorders.
- Expanding equitable genomic newborn screening: Findings from the GUARDIAN study examine positive rates and variant findings in more than 19,000 newborns across diverse genetic ancestries, informing the implementation of genomic newborn screening at scale.
“Advancing genomic medicine means turning scientific discovery into meaningful answers for patients,” said Linda Genen, MD, MPH, Chief Medical Officer at GeneDx. “Through our clinical data, technology and research collaborations, we’re building the evidence to make exome and genome sequencing a more accessible and actionable part of care across specialties and throughout life.”
The research includes three platform presentations, three rapid-fire poster talks and a Reviewer’s Choice poster, an honor awarded to the top 10% of posters at ASHG.
Featured GeneDx-Led and Collaborative Presentations
Platform Presentations:
- Genomic Newborn Screening Across Diverse Genetic Ancestries: GUARDIAN Positive Rates and Variant Findings Among >19,000 Newborns
- Britt Johnson, GeneDx – October 21, 11:15–11:30 a.m. | Room 517A
- Continuous clinical prioritization of copy number variants (CNVs) through dynamic feature reconstruction
- Robert Kueffner, GeneDx – October 22, 9:15–9:30 a.m. | Room 510
- Factors influencing molecular diagnostic yield in a clinical autism exome sequencing cohort of over 100,000 individuals
- Kendall King, GeneDx – October 22, 1:30–1:45 p.m. | Room 510
Rapid-Fire Poster Talks:
- Variants in SFPQ cause a dominant neurodevelopmental syndrome
- October 21, 10:30–10:33 a.m. | Room 710A
- Analysis of 184,786 developmental disorder trios identifies over a hundred novel DD-associated genes and candidate haplolethal genes
- October 21, 10:35–10:38 a.m. | Room 710A
- Real-world prevalence of clinically significant RNU4-2 variants and the value of genotype-first reanalysis
- Shelly Galasinski, GeneDx – October 21, 10:39–10:42 a.m. | Room 710A
Reviewer’s Choice Poster:
- Large-Scale Gene-Based Burden Analysis Reveals the Genetic Architecture of Microcephaly in 25,000 Individuals
- GeneDx – October 23, 2:30–4:30 p.m.
Additional accepted research spans autism gene discovery, sequencing technologies, structural variant detection, AI-assisted phenotype modeling, rapid neonatal genome sequencing, cardiovascular genetics and the economic impact of genomic testing. All study results remain under embargo until their respective ASHG presentations or poster sessions.
Read more here.