ACMG 2024
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 events@nanoporetech.com 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: https://fabricgenomics.com/products/acmg-2024/
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