ASHG Annual Meeting 2024

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In-booth features

For Research Use Only. Not for use in diagnostic procedures.

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Educational sessions

Session 1: Improving laboratory efficiencies with multiplexed PCR and analysis of microsatellite instability with the SeqStudio Flex system

Speakers: Drs. Claudia Litterst and Ami Patel, Staff Scientists, Thermo Fisher Scientific
Date: Wednesday, November 6
Time: 3–4 pm
Location: Room 105

In this session, we will discuss the latest in multiplexing PCR assays using Applied Biosystems real-time PCR systems. Our aim is to familiarize you with the benefits of multiplexing, which can significantly enhance the efficiency of your workflow. Additionally, we provide examples of how multiplexed PCR is used in complex biological queries.

We will also demonstrate the use of our TrueMark MSI research assay on the SeqStudio Flex CE instrument.  The detection of microsatellite instability (MSI) in tumor samples by capillary electrophoresis (CE) is one of the most widely used PCR/CE fragment analysis applications in molecular diagnostics. The TrueMark MSI assay includes 13 microsatellite loci that are used to generate an instability measurement, distributed across 5 fluorescent channels.

Session 2: Million Veteran Program's Advances in Genotyping and Pharmacogenomics, and understanding mtDNA-CN as a Biomarker

Speakers: Saiju Pyarajan, PhD, Director, Center for Data and Computational Sciences, Veterans Affairs (VA), Faculty, Harvard Medical School
Michael Chong, PhD, Head of Bioinformatics & Assistant Director, Clinical Research Laboratory, McMaster University
Date: Thursday, November 7
Time: 12–1 pm
Location: Room 110 (Lunch provided)

Join us for an insightful session that combines groundbreaking developments from two pioneering research initiatives.

The Million Veteran Program (MVP), a mega-biobank intricately linked with the U.S. national healthcare system, aims to enhance Veteran health through comprehensive genetic research. A key initiative within MVP, the MVP Return of Actionable Results (MVP-ROAR) Study, has successfully demonstrated the feasibility and importance of returning medically actionable genetic results, specifically focusing on familial hypercholesterolemia (FH). This initiative illustrates the vast potential of healthcare system-linked biobanks to integrate research findings into clinical practice, thereby advancing personalized healthcare solutions for Veterans.

Additionally, explore the emerging role of mitochondrial DNA copy number (mtDNA-CN) as a high-throughput biomarker in health and disease. Despite the pivotal role of mitochondria in several diseases, the study of mitochondrial biology at scale has been limited. Dr. Chong will discuss a novel bioinformatics pipeline, "AutoMitoC," developed to infer mtDNA-CN from genotyping arrays, shedding light on this accessible mitochondrial biomarker.

Discover how these innovative approaches are setting new standards in genetic research, clinical integration, and personalized medicine.

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Posters

Catch these exciting poster presentations while you can. Each poster will only be displayed for one day. All ASHG poster presenters are assigned a specific day/time to display and present their poster at ASHG 2024.

View our posters and plan your ASHG experience › 

The dual influence of reference panel size on genotype imputation accuracy and marker selection

Author: Joseph McGirr, Staff Scientist, Bioinformatics, Thermo Fisher Scientific
Date: Thursday, November 7
Time: 2:30–4:30 pm
Session title: Statistical Genetics and Genetic Epidemiology Poster, Thursday Session

Accurate genotype calls in complex genetic regions using microarrays

Author: Fan Lin, Staff Scientist, Bioinformatics, Thermo Fisher Scientific
Date: Thursday, November 7
Time: 2:30-4:30 pm
Session title: Genetic, Genomic, and Epigenomic Resources and Databases Poster, Thursday Session

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Networking reception