ACMG Annual Clinical Genetics Meeting 2026

Next-generation sequencing has transformed oncology diagnostics, but interpreting the growing volume of somatic variants remains a significant challenge for clinical laboratories. Fragmented annotation sources, evolving AMP/ACMG guidelines, and manual workflows can slow report sign-out and introduce variability into clinical interpretation.

Join our upcoming live webinar From NGS Chaos to Actionable Insights: Streamlining Somatic Variant Interpretation with GeneSpect Somatic Reporter, to see how GeneSpect Somatic Reporter helps streamline somatic variant interpretation by transforming complex NGS data into clear, standardized, and clinically actionable insights. During the session, we will demonstrate how automated evidence aggregation, AMP/ACMG-aligned classification, and intelligent reporting support consistent and efficient clinical workflows.

What you will learn

• How to streamline somatic variant interpretation across blood cancers and solid tumors

• How AMP/ACMG-aligned automated classification supports consistent variant assessment

• How complex genetic findings can be converted into structured reports ready for clinical sign-off

Date: March 2, 2026
Time: 9:00 AM PT | 12:00 PM ET | 6:00 PM CET

👉 Register now

Intelliseq będzie wystawcą podczas konferencji ACMG Annual Clinical Genetics Meeting 2026, która odbędzie się w dniach 11–13 marca 2026 roku w Baltimore, USA.

Podczas wydarzenia nasz zespół zaprezentuje rozwiązania GeneSpect, zaprojektowane w celu wspierania interpretacji danych genomowych zarówno w środowisku klinicznym, jak i badawczym. Odwiedzający będą mieli okazję porozmawiać o aktualnych wyzwaniach związanych z analizą genomową, poznać praktyczne zastosowania oraz dowiedzieć się więcej o naszym podejściu do usprawniania procesów interpretacji.

Dodatkowo Intelliseq zaprezentuje poster naukowy, przedstawiający wnioski z naszych prac nad analizą danych genomowych.

📍 Stoisko #1011
📅 11–13 marca 2026
📍 Baltimore Convention Center

Jeśli chcieliby Państwo umówić spotkanie lub poprosić o demo podczas ACMG 2026, zachęcamy do wcześniejszego kontaktu z naszym zespołem.

We had the privilege of delivering our talk “Genomic workflows: From variant calling to functional insights in cardiovascular applications” at the Lankenau Institute for Medical Research (LIMR), thanks to the invitation extended by Dr. Héctor Barajas-Martínez. The presentation explored how modern genomic analysis pipelines can support cardiovascular genetics by integrating large-scale DNA variant interpretation with phenotype-driven prioritization and standardized reporting.

At LIMR, cardiovascular clinical genetics efforts focus on providing patients with timely and reliable genetic information to guide diagnostic, risk-stratification, and therapeutic processes. Cardiovascular disorders, especially channelopathies and inherited arrhythmias, often require nuanced interpretation of genetic variants, where uncertainty can delay clinical action. 

Given LIMR’s strong foundation in cardiovascular research the talk bridged computational genomics with functional cardiac biology. Dr. Héctor Barajas-Martínez leads translational genomics studies aimed at identifying genetic markers that inform cardiovascular disease diagnosis and treatment. His research leverages cellular, molecular, and electrophysiological methods to characterize ion channel’s function and correlate wild-type and mutant channel behavior with arrhythmia phenotypes and drug toxicity. This work significantly contributes to distinguishing pathogenic variants from benign ones, ultimately aiding in the diagnostic process, especially for patients in whom the molecular basis of their disorder is not immediately evident.

During the presentation, we highlighted several key realities of today’s clinical genomics landscape: 

• the burden of large sequencing datasets and limited personnel, 

• the challenge of interpreting variants of uncertain significance, 

• the phenotypic heterogeneity and incomplete penetrance that complicate variant assessment. 

In this context, our tools offer meaningful value by accelerating variant prioritization and reducing manual classification workload.

We emphasized how tools like ExploRare and VarMatch enable phenotype-integrated, data-driven prioritization of variants and genes, helping identify those most likely to be clinically relevant. Furthermore, automated report generation supports clinicians by standardizing documentation and streamlining their diagnostic workflow.

Our  exchange at LIMR underscored the shared goal of enabling faster, clearer, and more actionable genetic diagnostics for cardiovascular patients, and we look forward to exploring collaborative avenues to further integrate computational interpretation with clinical application.