Episode 418

#417 ASHG 2026: Electronic Genome Mapping, AI in Genetics, & the Future of Research

DNA Today: A Genetics PodcastOct 23 · 42 min

Episode Description

For the third year in a row, DNA Today is bringing you inside the American Society of Human Genetics (ASHG) Annual Meeting, and this year, we've taken our genetics coverage international! We're reporting from beautiful Montréal, Canada, where thousands of geneticists, researchers, clinicians, and industry leaders gathered to share the latest breakthroughs shaping the future of genomics. From cutting-edge technologies to big questions about the future of genetic medicine, there's no shortage of exciting science to unpack. And don't worry, we're bringing you all the highlights, no passport required, eh?

In this episode, host Kira Dineen takes you behind the scenes of ASHG 2026 through two special segments recorded at the conference.

First, we stop by the Nabsys booth to chat with Founder and CEO Barrett Bready, MD, about how Electronic Genome Mapping (EGM) is advancing our ability to detect structural variants. We explore how the technology compares with traditional approaches, its emerging applications in hematologic malignancies, and the latest research Nabsys is showcasing at ASHG.

For our second segment, we're live on location! DNA Today teamed up with Wiley's Advanced Portfolio to co-host a special brunch featuring a live podcast recording right from the conference. With breakfast on the table and big questions on the menu, Kira moderated a conversation with leading genetics researchers and publishing experts about the discoveries, challenges, and opportunities shaping the field. From translating genetic findings into new therapies and harnessing AI to accelerate research to fostering interdisciplinary collaboration and rethinking the role of scientific publishing, this discussion goes beyond the conference presentations to explore where genetics is headed next.

Whether you joined us in Montréal or are experiencing the conference from afar, consider this your front-row seat to some of the conversations shaping the future of genetics. We're serving up fresh science with a side of maple syrup, because when it comes to genetics, there's always more to discover, eh?

Nabsys Segment Guest

Barrett Bready, MD is Founder and CEO of Nabsys. He is passionate about the impact that advanced technology can have on the understanding of disease as well as on its diagnosis and treatment. He has raised $150 million to realize a new way of analyzing DNA that uses proprietary solid-state electronic nanodetectors to analyze very long molecules, with an initial focus on genomic structural variation. Barrett is an adjunct professor at Brown University where he lectures on the rapidly evolving business of life sciences. He serves as a commissioner of the I-195 Redevelopment District Commission, a major land redevelopment initiative in downtown Providence, RI with a focus on life sciences and other high-technology sectors. He has received numerous awards including, in 2011, Rhode Island Innovator of the Year, and in 2018, a career achievement award from the Warren Alpert Medical School of Brown University. Barrett graduated from the highly competitive Program in Liberal Medical Education (PLME) at Brown University where he received an M.D. and an Sc.B. in Physics and won the undergraduate physics award (the Lindsay Prize) and the Galletti Prize for physics in medicine.

Nabsys Discussion Topics

ASHG 2026 conference highlights and a presentation on electronic genome mapping (EGM) in hematologic malignancies
Why genomic structural variants matter in cancer and rare disease
How traditional sequencing and cytogenetic approaches may leave gaps in detecting structural variation
Nabsys’ electronic genome mapping as a high-resolution, top-down approach to studying genome structure
How EGM uses electrical detection to read sequence-specific tags on long DNA molecules
Identifying deletions, insertions, inversions, and translocations by comparing tag patterns
How EGM relates to traditional cytogenetic methods such as FISH and karyotyping
The nanochannel detection process and how DNA molecules affect ionic current as they pass through
Nabsys’ relationship with Hitachi and the potential to scale the technology
Nabsys’ goal of expanding access to structural variant detection and single-molecule insights
ASHG posters on CRISPR-Cas9-mediated assay specificity and EGM applications for copy number variants in constitutional disorders
The potential for EGM to combine modalities and increase diagnostic yield over time

Wiley Advanced Genetics Panelists

Yuming Hu, PhD serves as the Editor-In-Chief for Advanced Genetics, which is a peer-reviewed, broad-scope, open-access journal dedicated to advancing gene-related research with a recently expanded scope. It includes not only human, animal, plant, and microbial genetics, genomics, and epigenomics, but also topics that employ genetic, omics technologies, bioinformatics, computational biology, and artificial intelligence as toolboxes for discovery and innovation. Dr. Hu received her B.Sc. and M.Sc. in Biotechnology from Wageningen University and her Ph.D. in Biochemistry and Biotechnology from Ghent University. She worked as a Research Assistant at the University of California, Davis, and completed a postdoctoral fellowship at Tsinghua University. She joined Wiley as a scientific editor in 2022.

Nadav Ahituv, PhD is a Professor in the Department of Bioengineering and Therapeutic Sciences and the Director of the Institute for Human Genetics at the University of California, San Francisco. He received his PhD in human genetics from Tel-Aviv University working on hereditary hearing loss. He then did his postdoc, specializing in functional genomics, in the Lawrence Berkeley National Laboratory and the DOE Joint Genome Institute. His current work is focused on identifying gene regulatory elements and linking nucleotide variation within them to various phenotypes including morphological differences between species, drug response and human disease. His lab was one of the co-developers of massively parallel reporter assays (MPRAs) that allow for high-throughput functional characterization of gene regulatory elements. In addition, he pioneered cis-regulation therapy (CRT), the use of gene regulatory elements as therapeutic targets for haploinsufficient disorders, and adipose modulation transplantation (AMT), a novel cancer cell therapy.

Brandon Lê, PhD is a genetic epidemiologist deeply passionate about biomedical research and uncovering the genetic etiologies of rare human genetic disorders, as well as a science communicator experienced in translating findings from bench to bedside. He has worked in sickle cell disease (SCD), essential tremor (ET), epigenetic aging, glaucoma, and bipolar disorder (BPD), and his training is in genetic epidemiology, statistical genetics, and computational biology as applied to analyzing large biological datasets. He is currently a postdoctoral scholar at the Virginia Institute for Psychiatric and Behavioral Genetics (VIPBG) at Virginia Commonwealth University (VCU) in Richmond, VA investigating the genetic etiology of bipolar disorder.

Panel Discussion Topics

The panelists introduce their backgrounds in plant molecular genetics, psychiatric genetics, functional genomics, gene therapy, and publishing.
A presidential symposium on science communication prompts discussion about making genetics more accessible to people outside the field.
The panel highlights the value of clear, audience-friendly language—for example, using “variant” rather than “mutation” when speaking to the public.
Panelists reflect on communicating genetics across different levels of expertise, including for conference attendees outside a session’s specific subfield.
A session on research beyond GWAS covers biobank studies, multi-omics and single-cell data calibration, false positives, machine-learning approaches to prioritizing genetic findings for drug discovery, and challenges in translating genetic discoveries into clinical trials.
AI is improving predictions of regulatory elements and variant effects, particularly in the non-coding genome. The panel sees promise in AI-assisted variant prioritization while emphasizing the need for human oversight.
Long-read sequencing and longer DNA synthesis may enable larger-scale genome engineering, high-throughput screening, and the study of combinatorial effects.
Publishing advice: write early and alongside experiments. Doing so can reveal missing controls, incomplete notes, or gaps in the research while they’re still easy to address.
Writing is a way of thinking, not just a way of documenting completed work.
For computational research, documenting tools, parameters, and steps as you work can provide a strong foundation for the methods section.
Sharing drafts with collaborators and readers from different backgrounds can improve clarity and help catch overlooked issues. Don’t wait for a perfect first draft before asking for feedback.
Panelists discuss longer publication timelines and the strain they can place on trainees, as well as the challenge of finding enough qualified peer reviewers.
Early-career researchers may be able to contribute to peer review, particularly with support from more experienced researchers.
The publishing perspective shared in the discussion allows AI for language editing, but not for generating scientific insights; the panel also raises concerns about the quality of AI-heavy review papers.
Authors can prepare for peer review by anticipating likely questions, addressing relevant alternative methods and analyses, and explaining limitations in the manuscript.
Starting early, outlining the paper, and acknowledging potential reviewer concerns can help strengthen submissions and make revisions more efficient.

ASHG 2026 Sessions & Events Mentioned

Wiley's Advanced Portfolio × DNA Today Brunch Discussion — Thursday, October 22. Moderated by Kira Dineen, featuring Yuming Hu, Nadav Ahituv, and Brandon Le. The event explored emerging genetics research, translating discoveries into therapies, and scientific collaboration.
Presidential Symposium: Communicating Science in an Uncertain World: Evidence, Storytelling, and Public Trust — Wednesday, October 21, 4:30–6:15 PM. Featuring Susan A. Slaugenhaupt, Alex Dainis, Natalie (Talia) Stroud, and Roxanne Khamsi.
Nabsys CoLab: Electronic Genome Mapping in Hematologic Malignancies: Bridging Cytogenetics and Molecular Genomics — Thursday, October 22, 5:00–5:30 PM. Alka Chaubey, PhD, FACMG, Chief Medical and Genomics Office, Nabsys
The Evolving Landscape of Genomic Newborn Screening with Global Experience and Emerging Challenges — Wednesday, October 21, 11:00 AM–12:00 PM.
Genetic Counselor Shared Interest Group Meetup on Wednesday, October 21, from 9:45–10:45 AM
Integrating AI and Knowledge Graphs for Human Genetics and Beyond: Innovations from the NIH Common Fund Data Ecosystem — Wednesday, October 21, 8:15–9:45 AM.
Presentation of ASHG Artificial Intelligence Initiative Report — Thursday, October 22, 9:45–10:45 AM.
Machine Learning-Driven Approaches to Variant Classification and Prioritization — Thursday, October 22, 8:15–9:45 AM.
EHR-Based Computational and AI Approaches in Clinical Genetics — Thursday, October 22, 1:30–2:30 PM.

Nabsys’ Resources

Nabsys’ Posters at ASHG

Reviewers Choice Poster #5008F: CRISPR/Cas9 Optimization by Electronic Genome Mapping presented by John Thompson, PhD, Principal Scientist, Nabsys on Friday, October 23 from 2:30-4:30 PM EDT
Poster #8146T: Genome-Scale Mapping of Human LINE-1 ORF2p Endonuclease Activity presented by Michael Gallagher, PhD, Software Applications Scientist, Nabsys on Thursday, October 22 from 4:15-6:15 PM EDT
Poster #8132W: CRISPR/Cas9 Customization of Electronic Genome Mapping Repeat Expansion Assays presented by Kasra Tabatabaei, PhD, Application Scientist, Nabsys on Wednesday, October 21 from 2:30-4:30 PM EDT
Poster #2031T: CRISPR-Assisted Electronic Genome Mapping for Robertsonian Translocations and FSHD presented by Erika Headrick, MS, Software Product Manager, Nabsys on Thursday, October 22 from 4:15-6:15 PM EDT
Poster #2025F: Assessment of Structural and Copy Number Variants in Constitutional Samples Using Electronic Genome Mapping presented by Adam Smith, PhD, FCCMG, Clinical Laboratory Director, LabCorp on Friday, October 23 from 2:30-4:30 PM EDT
Poster #8133F: Detection of Leukemia-Associated Structural Variants Using Electronic Genome Mapping Technology presented by Annarueber Lozar, M.S., Scientist, Nabsys on Friday, October 23 from 2:30-4:30 PM EDT
Poster #2040F: Evaluation of the clinical utility of Electronic Genome Mapping Analysis in the detection of disease causing structural variants in rare genetic diseases presented by Dr. Kumiko Yanagi, National Center for Child Health and Development, Friday, October 23 from 2:30-4:30 PM EDT

Publishing Resources:

Relevant DNA Today Podcast Episodes:

Next Conference:

Next stop on our conference road trip is Baltimore, MD for the National Society of Genetic Counselors (NSGC) annual conference. We can’t wait to see you there! If you see Kira, say hi and she will give you a DNA Today sticker!

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