ACMG 2024
12 - 16 March 2024 EDT
Toronto, Canada

Event overview

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 a can’t miss opportunities for industry, advocacy groups, government agencies, recruiters, academic institutions, and publishers to position their organization and showcase products and services to practitioners representing the entire genetics team.

Who says you can’t see it all? With a comprehensive view of structural variants and methylation, nanopore technology powers the bigger and bolder research questions you’ve always wanted to ask. Join the Oxford Nanopore team at booth 1514 to learn more about nanopore sequencing.

Come and meet the team

Members of the Oxford Nanopore team will be on hand throughout ACMG. Please contact ahead of the event if you would like to arrange a meeting. You will be able to find us at booth number ​1514 during exhibit hall hours - do stop by and say hello!

Learning Lounge with Fabric Genomics

BadgerSeq: Developing a decentralized model for ultra-rapid long-read whole genome sequencing

Date: Friday, March 15th, 2024

Time: 10:30 – 11:00 AM

Location: Pacific E

Rapid genome sequencing for the diagnosis of critically ill infants currently has significant gaps: Access – short-read sequencing technology limits rapid genome sequencing to a small number of very high throughput laboratories nationwide; Reach – short-read sequencing cannot detect many clinically important genomic variants; and Speed – the time from clinical presentation to initial results typically exceeds 7 days, after numerous critical clinical decisions have already been made.

To address these challenges we are developing Badger-Seq, a decentralized model for 72 hour genomic sequencing that combines artificial intelligence-assisted selection of patients and long-read nanopore sequencing with automated genome interpretation and reporting. Early data from retrospective and prospective cases run through this pipeline will be shared in this presentation. More details can be found here:

Posters Featuring Nanopore Technology

Development of a single comprehensive genomic test based on long-read sequencing technology for the diagnosis of rare genetic disorders

Poster #: P209

First Author: Siddhartha Sen, MD, PhD, University of Minnesota

Time: Thursday, March 14th, 2024, 10:30 AM - 12:00 PM

Using long-read sequencing for genomic and epigenomic analysis in patient-derived samples with somatic IDH1 mosaicism

Poster #: P224

First Author: Carolina M. Montano, MD, PhD, Johns Hopkins University

Time: Friday, March 15th, 2024, 10:30 AM - 12:00 PM

Rapid complement mediated TMA diagnosis and early intervention in a renal intensive care unit using Nanopore technology

Poster #: P392

First Author: Nadhi Yousfi, PhD , CoRaKid, INSERM

Time: Friday, March 15th, 2024, 10:30 AM - 12:00 PM

Amplification-Based Nanopore Sequencing Accurately Detects HBA and HBB SNVs, Indels, and Structural Variants in Clinical Thalassemia Samples

Poster #: P585

First Author: Jaime Lopes, PhD, FACMG , Cincinnati Children's Hospital Medical Center

Time: Thursday, March 14th, 2024, 10:30 AM - 12:00 PM

A PCR/Nanopore Assay for Accurate Variant Detection in Hard-to-Decipher Carrier Screening Genes with Automated Analysis Software

Poster #: P620

First Author: Bryan J. Killinger, PhD, Assuragen

Time: Friday, March 15th, 2024, 10:30 AM - 12:00 PM

Multi-Modal Testing, Including Long-Read Sequencing, to Elucidate an Unsolved Case of Dyskeratosis Congen

Poster #: P630

First Author: Ankita Jhuraney, MS, PhD, University of Washington Medical Center

Time: Friday, March 15th, 2024, 10:30 AM - 12:00 PM

Development of an affordable rapid human genome sequencing assay using long read PromethiON 2

Poster #: P646

First Author: Wayne Xianding Deng, PhD , MyOme Inc.

Time: Friday, March 15th, 2024, 10:30 AM - 12:00 PM

Performing long-read sequencing from dried blood spot cards

Poster #: P655

First Author: Sydney Ward, BS, University of Washington

Time: Thursday, March 14th, 2024, 10:30 AM - 12:00 PM

Advantages of long-read sequencing in clinical genomics: A pilot study on ataxia patients

Poster #: P840

First Author: Sebastien Audet, MSc, Graduate Student, University of Montreal

Time: Friday, March 15th, 2024, 10:30 AM - 12:00 PM