ACMG 2026

Delivering a trusted genomic workflow from sample to report

Illumina is excited to be exhibiting at this year’s ACMG Annual Meeting in Baltimore. We will be featuring a dynamic program of end-to-end solutions, technologies and talks that can support labs who are eager to embrace genomics or simply looking to scale and optimize their workflows.

This year’s highlights include Illumina mapped read technology, a new approach to whole-genome sequencing that generates long-range insights using standard SBS sequencing; and 5-base solution, delivering simultaneous detection of genetic variants and methylation patterns in a single assay.

Visit Illumina booth 1617 to meet with our specialists and learn how to get the most out of your genome. We will be providing live demos of our interpretation software and Medical Affairs & Market Access education and consultation opportunities.

Schedule of Illumina events

Wednesday, March 11

12:15 PM – 1:15 PM (ET)
Corporate Partner Insights Session
Development and deployment of strategies to aid genome interpretation
Room 339–340

Genome sequencing is becoming a first-tier genetic test for individuals with a suspected rare disorder. However, the increased volumes create challenges and bottlenecks for laboratories, particularly for genome interpretation and reporting. These challenges necessitate the development of tools and strategies to increase throughput and ultimately improve accuracy.

The core theme of this talk is to discuss practical approaches to reduce time for genome interpretation and increase yield, drawing on the real-world experience at SickKids Genome Diagnostics Laboratory. We focus on two complementary strategies: artificial intelligence (AI) assisted genome interpretation and networked data sharing and discuss ongoing development and challenges with implementation in a genomics laboratory.

Christian Marshall, PhD, FACMG, FCCMG
Molecular Laboratory Dir, Div of Genome Diagnostics, Dept of Pediatric Laboratory Medicine
The Hospital for Sick Children, Toronto, Canada

Livia Loureiro, PhD
Sr Staff Medical Science Liaison, Medical Affairs
Illumina

Thursday, March 12

12 noon – 1 PM (ET)
Platform Presentation
A rapid, novel approach to rare disease and clinical genetic variant discovery using on-flowcell proximity sequencing and haplotype-resolved variant calling
Ballroom III

Rare-disease testing remains unevenly accessible and is often a prolonged diagnostic odyssey due to stepwise testing. This challenge is magnified for medically relevant paralogous loci, where high homology and structural complexity create difficulty for standard short-read sequencing.

To overcome these barriers, we present a novel workflow that involves the Illumina on-flow cell proximity sequencing and an informatics framework -multi-region joint detection (MRJD) - to generate haplotype-resolved genotypes across historically “dark” genomic regions. Our data supports our technology as a unified, genome-wide assay that brings historically “dark” regions into routine clinical research while reducing the need for orthogonal testing, improving time to result.

Shunhua Han, PhD
Bioinformatics Scientist
Illumina

Friday, March 13

11:55 AM–12:25 PM (ET)
Exhibit Theater
Next-generation genome: Expanding access to complex genomics for rare disease
Exhibit Theater 1

In this session, Dr. Fen Guo will present on her innovative approaches tackling complex rare diseases demonstrating the value of using genome sequencing (GS) as a tier-1 test, leveraging GS as the backbone for other workflows, and evaluating constellation mapped read technology for resolving complex variants in medically challenging genomic regions. Her talk invites us to think creatively about how advancing technology can uncover an unparalleled range of pathogenic abnormalities in rare disease.

Fen Guo, PhD, FACMG, FCCMG
Scientific Dir & CLIA/CAP Lab Dir
UPMC Clinical Genomics Laboratory, High Throughput Genomics Core
Assoc Program Dir, ABMGG Laboratory Genetics and Genomics Fellowship
Asst Professor, Univ of Pittsburgh

David Silva
Assoc Dir, Product Mgmt
Illumina

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