ASHG Annual Meeting 2026

Abstract

Next-generation sequencing (NGS) enables broad discovery of genomic and transcriptomic changes, but translating those findings into confident biological conclusions often requires orthogonal verification. In this industry education session, we will explore how quantitative PCR (qPCR) can complement sequencing workflows by enabling a sensitive, targeted approach to confirm key NGS findings. Drawing on research applications discussed by Dr. Christopher Mason of Weill Cornell Medicine, the session will highlight the use of qPCR to verify gene expression changes, gene fusions, isoform variation, copy-number changes, and structural variants identified through RNA sequencing, single-cell sequencing, spatial transcriptomics, and other NGS approaches. We will also discuss practical considerations that can influence verification quality, including reference-gene selection, biological and technical replicates, and the complementary strengths and limitations of different molecular technologies. Examples from cancer research will illustrate how sequencing can provide broad molecular profiling, while qPCR enables focused follow-up of biologically relevant targets, including mutations associated with disease monitoring. Attendees will leave with a clearer understanding of where qPCR can fit within NGS-driven research workflows and how combining broad discovery with targeted verification can strengthen confidence in genomic insights and potential downstream decision-making. This integrated approach can help researchers move efficiently from discovery toward analytical validation.​

Speaker information

Christopher E. Mason, PhD is a Professor of Systems and Computational Biomedicine at Weill Cornell Medicine, the WorldQuant Professor of Genomics and Computational Biomedicine, and a Professor of Neuroscience. His laboratory combines computational and experimental genomics to identify and characterize the genetic elements governing human biology, with particular emphasis on brain development. His research builds cell-specific maps spanning genetic, epigenetic, transcriptional, and translational activity and develops methods to identify and functionally annotate genomic variants involved in development and disease. The long-term aim is to understand the human genome well enough to enable genetic networks in human cells to be repaired, re-engineered, or fortified.​

Chris earned his PhD in Genetics from Yale University (2006), an MS from Yale (2003), and a BS from the University of Wisconsin–Madison (2001). His current research portfolio also includes NASA-funded work on spaceflight biology, radiation, mitochondrial stress, and extreme-environment genomics.​

Abstract

How can researchers focus sequencing on the RNA content most relevant to their research question? Exome RNA sequencing uses hybridization capture to enrich for coding transcripts, reducing reads spent on intronic, intergenic, and other less relevant RNA content and enabling more efficient use of sequencing capacity. In this session, we will introduce how Exome RNA sequencing works and where a coding region focused approach can help provide value. Positioned between broad whole-transcriptome RNA-seq and highly targeted RNA panels, Exome RNA can provide broad coverage of expressed genes while focusing sequencing on coding regions. We will also introduce the Applied Biosystems Exome RNA sequencing offering and how it can be incorporated into existing genomics workflows and research applications.

Speaker information

Jillian Loomis is a bioinformatics scientist with 8+ years of experience spanning genomics, next-generation sequencing, microarray genotyping, public health surveillance, and scientific customer support. She currently works as a Field Bioinformatics Scientist at Thermo Fisher Scientific, supporting complex genotyping workflows and software, troubleshooting data analysis challenges, and collaborating across technical and commercial teams. Previously, she worked in public health genomics, performing whole-genome sequencing and bioinformatics analysis for infectious disease surveillance and outbreak detection.​

Abstract

Population-scale pharmacogenomics research has the potential to improve future drug safety and therapeutic outcomes by identifying variants relevant to clinical research. While whole-genome sequencing (WGS) is a powerful discovery tool, routine implementation requires scalable, cost-effective genotyping solutions.​ This presentation will showcase the implementation of a SwiftArray-based pharmacogenomics workflow within a large Spanish population research initiative. Following an initial WGS discovery phase, a targeted panel covering variants across 30genes involved in drug metabolism, transport, toxicity, and treatment response was deployed to support high-throughput surveillance. The workflow integrates streamlined sample processing, genotype calling, haplotype assignment, and phenotype translation.​ Results from thousands of participants demonstrate the feasibility of transitioning from genomic discovery to routine pharmacogenomic testing using targeted genotyping. The study identified CYP2D6, UGT1A1, and SLCO1B1 variants associated with altered drug metabolism and treatment response. The use of non-invasive buccal swab collection further simplifies sample collection while supporting high-quality genotyping.​ Attendees will gain practical insights into implementing population-scale pharmacogenomics research programs and how the Applied Biosystems Axiom SwiftArrayStudio platform can enable efficient, high-throughput pharmacogenomic surveillance.​

Speaker information

Geneticist and Technical Director of Genetics at Sanitas Hospitals. PhD in Molecular Biology and Genetics. Trained in clinical genetics in the group of Dr. Cigudosa at the Spanish National Cancer Research Centre (CNIO). Leading genetic laboratories in private institutions since 2008. In 2023, he assumed the role of Technical Director of Genetics at Sanitas Hospitales where he also leads the Genetic Counselling Unit within the My Genetic Health program and the Sanitas Hospitales group.

Specialized in prenatal genomic diagnosis, he has actively contributed to the implementation of technologies such as chromosomal microarrays and non-invasive prenatal testing (NIPT) in this field. He is currently president of the Spanish Prenatal Diagnosis Association, serves as a prenatal diagnosis advisor to GENQA and as an external advisor to the Assisted Human Reproductive National Comission (CNRHA). Lately, he is currently coordinating the technical team responsible for developing the National Healthcare System’s prenatal diagnosis and reproductive health genetics portfolio at the Spanish Ministry of Health.