2023 ACMG Clinical Genetics Annual Meeting


No rare disease will go unseen.

Members of the medical genetics and genomics community from across the globe will come together for four days of professional growth, education, networking, and collaboration. The ACMG Annual Meeting provides can’t-miss opportunities for industry, advocacy groups, government agencies, academic institutions, and publishers to position their organization and showcase products and services to practitioners representing the entire genetics team.

Visit Illumina booth 601 to learn more about our solutions for whole-genome sequencing, Illumina Complete Long Reads, and Illumina Connected Software to help uncover rare disease insights.

Industry platform presentation: Meeting room #250
The impact of whole-genome sequencing in a diverse global population of genetic disease patients

Thursday, March 16, 11:30–11:45 AM (MT)

The majority of patients with rare Mendelian disorders reside in low- and middle-income (LMI) households and countries. The potential impact of clinical whole-genome sequencing (WGS) in this population has not been systematically investigated, in part because of challenges of test deployment and expectations that a molecular diagnosis is unlikely to lead to meaningful changes of management (COM) in LMI environments. Here we report a retrospective observational cohort analysis of 1,004 consecutive resource-constrained individuals with a suspected rare genetic disease who received philanthropic clinical WGS as participants in the iHope program.

Dr. Ryan Taft, Illumina

Dr. Ryan Taft
VP, Scientific Research

Exhibit theatre talk: Exhibit Theater #1
Illumina Complete Long Reads: Rare disease insights from complex genomes

Friday, March 17, 11:20–11:50 AM (MT)

Illumina next-generation sequencing (NGS) has been the most widely adopted technology for human whole-genome sequencing (WGS), delivering an accurate, scalable, cost-effective solution, featured in over 300,000 scientific publications. However, a small portion of the genome remains challenging to map due to highly repetitive or highly homologous regions. Illumina Complete Long-Reads will address these edge cases and accelerate access to the remaining ~5% of genic regions. In this presentation, we will share use cases of Complete Long Reads and highlight research being done by collaborators around the world.

David Silva

David Silva
Staff Product Manager, Product Management

Book your Emedgene demo today.

We are hosting private demos from the Illumina booth. Schedule your session now with a data interpretation expert and sequencing solutions expert for a hands-on, interactive learning experience tailored to your use case.

Submit a meeting request


Date & Time
Mar 14, 2023 – Mar 18, 2023
Salt Palace, Booth 601
Salt Lake City, Utah
United States
Complex Disease Genomics, Genetic & Rare Diseases
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