ASHG and NSGC have come together to present an engaging session on how genetics and genomics professionals can adapt their communication style and message when discussing breakthroughs with both patients and the public. Discover how to tailor your message and style to truly connect with your audience—no matter how complex the science. Our expert presenters will equip you with dynamic tools and proven techniques to make your research not just understandable, but impactful.

Attendees will learn:

1. The power of storytelling in making breakthroughs in genetics and genomics relatable and memorable.
2. How to communicate scientific and medical terms to different public audiences to better demonstrate their impact, despite increasing distrust.
3. Strategies to break down intricate scientific information without sacrificing its substance.

In 2025, the Open Targets Platform will be updated to include the most comprehensive genetic evidence to date from common and rare genetic variations. This update will include multi-ancestry fine-mapping of publicly available GWAS studies and molecular QTLs resulting in 2.5M credible sets derived from GWAS catalog, eQTL catalogue, Finngen and proteomics from the UK Biobank Pharma Proteomics Project, as well as systematic colocalisation analysis and machine learning-based Locus-2-Gene (L2G) assignment. This webinar will introduce the expanded Platform to the ASHG community, showcasing its new features and how it can drive advances in human genetics research and drug discovery. Participants will gain insights into: 

1. Open Targets Consortium and Open Targets Platform 

2. Open Targets Gentropy 

3. Exploring the updated Platform: Hands-on guidance on navigating the Platform, including features such as variant, study, and credible set pages, which support advanced genetic analysis use cases. 

Yuchen Zhou will discuss a novel method that applies a multimodal AI model to physiological waveforms, like ECGs, to improve the genetic prediction of cardiovascular traits. The presentation will cover how this novel approach leveraged the shared and orthogonal signals in multimodal data and led to better genetic discovery.

Overview of Presentation

• This study investigated if deep learning representations of multimodal physiological waveforms (e.g., ECG, PPG) could enhance genomic discovery for cardiovascular traits.
• Variational Autoencoder (VAE) models trained on multimodal medical waveform data jointly and independently were developed to validate the advantage of multimodal learning.
• Genome-Wide Association Studies (GWAS) were then performed on these AI-generated latent embeddings from multimodal VAE and Unimodal VAE to search for genetic associations.
• The approach successfully identified novel genetic loci associated with heart function, which were not discoverable using more traditional GWAS methods.
• These findings demonstrate that integrating multimodal AI with large-scale genetic data can significantly improve the power of genomic discovery and enhance the prediction of complex traits.

The NIH’s All of Us Research Program and NHGRI’s Genomic Analysis Visualization and Informatics Lab Space (AnVIL) are collaborating to build an imputation service, backed by the largest imputation panel in the world. The panel is derived from whole genome data of over 515,000 participants, including more than 250,000 from non-European ancestries.  Attendees will hear about the development of the service, learn to submit data to the service for imputation, and perform a down stream analysis calculating a polygenic risk score on data imputed with the service. 

Participants will be provided with a test vcf to submit to the service, and will be instructed in the use of a dedicated command line tool for interacting with the service.  PRS calculation will be performed using PLINK.

Learning Objectives:

• Illustrate the utility of imputation in genomic analysis 

• Apply the AoU/AnVIL imputation service to genomic data 

• Evaluate the accuracy of imputed datasets 

• Plan future analyses that can be enhanced using imputation 

Are you attending ASHG 2025 in Boston, MA, this October? You may be eligible for a registration discount for this Virtual Workshop.

If you have purchased a ticket to any of these ASHG 2025 events, please use code ASHGws-50 for a discount on your registration for this workshop!

• ASHG 2025 Career Development Panel: Starting a Lab, Then Vs Now
• ASHG 2025 Leadership Workshop: Managing People, Projects, and Progress
• ASHG 2025 Lessons from the Field: A Dialogue on Promoting Opportunity and Engagement in Human Genetics and Genomics
• ASHG 2025 Strategies for Communicating Your Science to a Variety of Audiences
• Behind-the-Scenes: Publications Workshop
• ASHG 2025 UCSC Genome Browser Short Course
• ASHG 2025 Workshop: Applications of Population Descriptors in Genomics Research
• ASHG 2025 Workshop: Assessing Genetic Variants for Antisense Oligonucleotide Therapy Amenability: Practical Training Workshop and Discussion
• ASHG 2025 Workshop: Nextflow Run: Getting Started with Nextflow for Bioinformatics
• ASHG 2025 Workshop: Pathway Analysis for All: Hands-On Training with Reactome
• ASHG 2025 Workshop: The Human Pangenome: Data, Tools, and Workflows
• ASHG 2025 Workshop: The Michigan Imputation Server: Data Preparation, Genotype Imputation, and Data Analysis

To check that you have purchased an add-on experience, please refer to your ASHG 2025 registration confirmation email or access order information by logging into your account at ashg.org. Please contact digitalprograms@ashg.org if you have any questions or issues in applying your discount code.

With the advent of new technologies and deepening understanding of the nature of genomic aberrations and/or pathogenic variants, there is an increasing need for an international nomenclature to report complex genomic findings. The International System for Cytogenomic Nomenclature (ISCN) enables individuals to describe and communicate effectively normal and abnormal results found in their research or diagnostic studies. Globally, ISCN is used to describe numerical and structural variation, haplotypes, gene fusion and repeat expansion results at a genome level effectively and without ambiguity to clinicians, public databases and in publications. It provides a standard approach to describe any genomic rearrangement identified by karyotyping, FISH, microarray, genome mapping, DNA sequencing  and various region-specific assays. ISCN also incorporates, as applicable, whether the abnormality is inherited or de novo, the proportion of the sample with the aberration and the variant allele frequency (VAF).

ISCN 2024 represents one of the most significant reviews with the generic rules being codified, plus the inclusion of genome mapping, targeted karyotyping, targeted arrays, imprinted and fusion gene nomenclature.

This interactive workshop will present the recently released ISCN 2024, some complex examples, the educational platforms available through Genomic Quality Assessment (GenQA) to provide training and competency tools for laboratories and clinicians alike as well as an interactive question and answer session plus an audience quiz. This workshop is suitable for all staff working in genomics, especially those working in the field of cytogenomics. A basic knowledge of ISCN is required for this workshop.

Learning Objectives

1. Understand the rules and the practical application of cytogenomic ISCN nomenclature
2. The ability to differentiate when to apply ISCN or HGVS nomenclature
3. To be able to formulate and use the ISCN 2024 nomenclature in their own laboratories, clinical practices and in publications
4. To be able to apply ISCN for real complex examples

There will not be a recording of this workshop available on-demand.

Are you attending ASHG 2025 in Boston, MA, this October? You may be eligible for a registration discount for this Virtual Workshop. 

If you have purchased a ticket to any of these ASHG 2025 events, please use code ASHGws-50 for a discount on your registration for this workshop!

• ASHG 2025 Career Development Panel: Starting a Lab, Then Vs Now
• ASHG 2025 Leadership Workshop: Managing People, Projects, and Progress
• ASHG 2025 Lessons from the Field: A Dialogue on Promoting Opportunity and Engagement in Human Genetics and Genomics
• ASHG 2025 Strategies for Communicating Your Science to a Variety of Audiences
• Behind-the-Scenes: Publications Workshop
• ASHG 2025 UCSC Genome Browser Short Course
• ASHG 2025 Workshop: Applications of Population Descriptors in Genomics Research
• ASHG 2025 Workshop: Assessing Genetic Variants for Antisense Oligonucleotide Therapy Amenability: Practical Training Workshop and Discussion
• ASHG 2025 Workshop: Nextflow Run: Getting Started with Nextflow for Bioinformatics
• ASHG 2025 Workshop: Pathway Analysis for All: Hands-On Training with Reactome
• ASHG 2025 Workshop: The Human Pangenome: Data, Tools, and Workflows
• ASHG 2025 Workshop: The Michigan Imputation Server: Data Preparation, Genotype Imputation, and Data Analysis

To check that you have purchased an add-on experience, please refer to your ASHG 2025 registration confirmation email or access order information by logging into your account at ashg.org. Please contact digitalprograms@ashg.org if you have any questions or issues in applying your discount code.

Drs. Sharma and Wojcik will present recently published work investigating the role of both genetic ancestry and sociocultural factors when considering the genetic risk for body-mass-index (BMI) in the Hispanic Community Health Study/Study of Latinos. Significant gene-environment interactions persisted in only some subgroups of Hispanic/Latino ethnicity, even after adjustment for ancestry differences, emphasizing the importance of finer-level population descriptors in avoiding spurious findings of gene-environment interactions due to both genetic and sociocultural substructure.

Overview of Presentation:

• We conducted an analysis of over 7,000 participants in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) to examine how self-identified background group and genetic ancestry influence gene–environment interactions between BMI and a polygenic score for BMI (PGSBMI).
• We found that pooled analyses masked important heterogeneity—environmental and sociocultural variables, as well as genetic ancestry (particularly Amerindigenous [AME] ancestry), varied significantly across background groups.
• The predictive performance of the BMI polygenic score decreased with increasing AME ancestry, and significant gene–environment interactions with age at immigration persisted in certain subgroups.
• Disaggregating analyses by both background group and genetic ancestry is critical to avoid confounding and misinterpretation of gene-environment interactions in a Hispanic/Latino cohort.
• The equitable application of precision medicine tools requires finer detail on population descriptors in large, diverse study populations to better characterize important genetic and environmental heterogeneity within and between groups.

Illumina Digital CoLab - Constellation: The Next Generation of Whole Genome Sequencing (WGS), hosted by the Emerging Laboratory Technologies SIG

Ali Crawford is a Sr. Director at Illumina. In this CoLab, Ali Crawford, PhD will present on Constellation mapped reads, a novel on flow cell whole genome assay. The Constellation mapped reads workflow moves typical DNA library prep directly onto the flow cell, where DNA is tagmented and sequenced in nanowells on the flow cell surface. Using information from neighboring nanowells, many additional insights can be derived with Constellation as compared to traditional short read whole genome sequencing. This workflow can be utilized for any researcher who is interested in additional insights from Illumina whole genome sequencing including haplotype information, improved callability in high homologous regions, and improved structural variant calling and visualization. This presentation will cover how these genomes compare to other sequencing technologies and ways to interpret these new outputs.

Overview of Presentation

• Overview of the Constellation technology
• Review of data outputs and benchmarks to other technology
• Specific examples of Constellation specific insights and how to interpret them

Almost all individuals will carry a genetic marker that affects their drug response and warrants therapy adjustments. Pauline Lanting, PharmD, will discuss the feasibility of a low-cost, pre-emptive pharmacogenetic passport that could be readily implemented in clinical settings to ensure patients receive optimal drug therapy based on their genetic makeup.

Overview of Presentation:

• Taking advantage of existing genetic data generated in two biobanks, we developed and validated Asterix, a low-cost, clinical-grade PGx passport pipeline for 12 PGx genes.
• We performed and clinically validated genetic variant calling and statistical phasing and imputation. In addition, we developed and validated a CYP2D6 copy-number-variant-calling tool, forgoing the need to use separate PCR-based copy-number detection.
• We returned 1,227 PGx passports to biobank participants via a layperson-friendly app, improving knowledge of PGx among citizens.
• Our study demonstrates the feasibility of a low-cost, clinical-grade PGx passport pipeline that could be readily implemented in clinical settings to enhance personalized healthcare, ensuring that patients receive the most effective and safe drug therapy based on their unique genetic makeup.

A discussion of, "De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features" with Xueyang Pan, PhD and hosts, Martin Breuss, PhD and Noha Sharafeldin, MBBCh, MSc, PhD.

A discussion of, "Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia" with Boxun Zhao and hosts, Martin Breuss, PhD and Noha Sharafeldin, MBBCh, MSc, PhD.