SeqOne is proud to join the world’s largest gathering of human genetics and genomics specialists at the ASHG 2026 Annual Meeting. 

Bringing together global researchers, clinicians, and industry leaders to present groundbreaking science, ASHG highlights cutting-edge discoveries across functional genomics, disease gene identification, translational diagnostics, and population-scale genomics.

Key Themes: 

  • Translational Genomics & Clinical Care: Accelerating the integration of novel genetic findings into diagnostic workflows, risk prediction, and targeted therapies.
  • Omics Innovations & Data Science: Advancing high-throughput sequencing technologies, single-cell analysis, multi-omics, and AI-driven bioinformatic pipelines.
  • Population Genetics & Diversity: Expanding genomic research across diverse ancestry cohorts to uncover fundamental biology and ensure equitable precision medicine.

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🧬 Experience the platform at Booth 521

  • One NGS Platform, Built for Scale: End-to-end interpretation workflow with broad wet lab and sequencer compatibility.
  • AI Precision for Clinical Workflows: Built for real-world labs, SeqOne delivers fast, actionable insights, helping your team spend less time on variant interpretation and more time on confident clinical decisions.
  • Evaluate SeqOne for yourself: Visit our booth to explore our latest resources and learn how to start a free 30-day trial using your own data.

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📣 Join our ASHG CoLab Theater:

Ultra–Low-Cost Genomic Newborn Screening from Dried Blood Spots via DNA Pooling: A Proof-of-Concept Study

Discover how Dr. Arindam Bhattacharjee (Harvard Medical School & Brigham and Women’s Hospital) is unlocking affordable, population-scale newborn screening. 

By pairing 1–2 dried blood spot extractions with a clever 2-D DNA pooling strategy, this breakthrough workflow reduces 100 individual samples down to just 20 sequencing pools. 

Driven by Element AVITI sequencing and SeqOne’s low-VAF variant calling pipelines, the end-to-end approach achieves an impressive 99.8% sensitivity while slashing sample prep and bioinformatic bottlenecks. 

Speaker: Arindam (Andy) Bhattacharjee, PhD, Assistant Professor of Pediatrics, Harvard Medical School, Department of Pediatrics, Division of Newborn Medicine, Brigham and Women’s Hospital, Boston, MA, USA
Day: Wednesday, October 21st
Time: 4:00 - 4:00 P.M. EDT
Location: Theater 1

🗓️ Add CoLab Theater to Outlook/iCalendar | 🗓️Add CoLab Theater to Google Calendar

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📣 Visit our ASHG Poster Presentations:

Real-World Clinical Validation of DiagAI for WGS Interpretation in the NHS-GMS: Robust Prioritization and Rescue of Pseudogene-Masked Variants

Tired of wading through hundreds of candidate variants or losing diagnostic answers to rigid hard-filters? See how DiagAI combines AI pathogenicity prediction with automated phenotype matching to streamline routine rare-disease interpretation without compromising on hard-to-detect genomic regions.

Across 270 real-world NHS-GMS rare-disease cases, DiagAI exceeded Exomiser v13.2+ with a 93.3% Top-5 diagnostic yield (+7.3% percentage points) while cutting review workloads to just 5 variants per case. Crucially, it rescues diagnostic variants in complex pseudogene regions like GBA1 that traditional hard-filters miss.

Presenter: Alexandre Boulat, Data Science Engineer, SeqOne
Day: Wednesday, October 21st
Time: 2:30 - 4:30 PM

Detection and Classification of Uniparental Disomy from Clinical Whole-Exome Data Using the GermVar Pipeline

Struggling to reliably detect uniparental disomy or distinguish true loss of heterozygosity from genomic deletions in exome data? Explore how GermVar addresses these clinical WES challenges and helps unmask recessive variants or imprinting disorders in routine workflows.

GermVar supports reliable uniparental disomy (UPD) detection from clinical whole-exome data, successfully identifying whole-chromosome, segmental, and rare mosaic UPD events. By combining run-of-homozygosity calling with B-allele frequency screening and CNV integration, it helps reviewers avoid misclassification and provides clear, interactive interpretation reports for both singleton and trio cases.

Presenter: Pablo Botas, VP Product, Rare & Inherited Diseases, SeqOne
Day: Wednesday, October 23rd
Time: 2:30 - 4:30 PM

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👋 Meet the SeqOne Team

In town for the event? Let's connect! We’re booking 1-on-1 sessions to discuss whatever is top of mind for your team, from scientific collaborations and business inquiries to live walkthroughs of our NGS platform.

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‍Aaron Hersum
Account Executive, North America
👉Book a Meeting

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‍Elodie Hebbati Desmaris
Account Executive, France & Belgium
👉Book a Meeting

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‍Pablo Botas
VP Product, Rare & Inherited Diseases
👉Book a Meeting

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‍Alexandre Boulat
Data Science Engineer
👉Book a Meeting

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‍Andrew Legan
Technical Field Application Scientist, North America
👉Book a Meeting

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