Meet Element Biosciences at ASHG 2025

Join Element Biosciences at ASHG 2025. See how AVITI24 can enable you to uncover and understand genetic variants with flexible, affordable access to NGS and built-in 5D multiomics capabilities for a fully integrated view of protein, RNA, cell morphology, spatial resolution, and dynamic response.

Meet us at booth 941.

CoLab Presentation

A PCR-Free Hybrid Capture Approach for Detection of Pathogenic Repeat Expansions in Targeted Short Read Sequencing

Date: Friday, October 17, 2025
Time: 12:00 PM - 12:30 PM
Exhibit Hall Theater # 2
Rebecca Barnard, PhD, Bioinformatics Application Scientist, Twist Bioscience

Repeat expansions are a well-established cause of more than fifty monogenic disorders, including Huntington’s disease (HTT), Fragile X syndrome (FMR1), myotonic dystrophy type 1 (DMPK), Friedreich’s ataxia (FXN), and several spinocerebellar ataxias such as ATXN1, ATXN2, and ATXN3. Despite their clinical importance, these loci are often excluded from short read exome and targeted sequencing panels due to limitations in probe hybridization and the tendency of expanded alleles to have biased representation by PCR amplification, preventing reliable detection.

To address this gap, we developed a fully PCR-free hybrid capture workflow that avoids amplification-related dropout and retains accurate representation of repetitive loci. By integrating custom-designed hybridization probes targeting repeat expansion loci including C9orf72, DMPK, FXN, FMR1, and multiple ATXN genes, this novel method enables detection of pathogenic repeat expansions without requiring whole genome or long-read platforms.

Scientific Posters

Spatial Multi-Omics Reveals Mutation Class–Specific Neurodevelopmental Perturbations in 8p Syndrome
Date: Wednesday, October 15
Time: 2:30 PM - 4:30 PM
Author: Autumn Bandy, Purdue University
Board #: 4006W

Linking Environmental Exposures to Somatic Mutations in Pet Dogs
Date: Thursday, October 16
Time: 2:30 PM - 4:30 PM
Author: Christopher Husted
Board #: 9059T
View poster →

Applications of Direct In Sample Sequencing in Optical Pooled Screens and Spatial Transcriptomics
Date: Thursday, October 16
Time: 2:30 PM - 4:30 PM
Author: Daniel Honigfort, PhD
Board #: 4008T
View poster →

A PCR-Free Hybrid Capture Approach for Detection of Pathogenic Repeat Expansions in Targeted Sequencing
Date: Thursday, October 16
Time: 2:30 PM - 4:30 PM
Author: Meredith Ashby, PhD
Board #: 4032T
View poster →

High-fidelity AVITI sequencing of a four-generation CEPH/Utah pedigree reveals low mutation rates at homopolymer loci despite high slippage potential
Date: Thursday, October 16
Time: 2:30 PM - 4:30 PM
Author: Hannah Happ
Board #: 2024T

Spatially Resolved Whole Transcriptome Sequencing and Proteomics on Fresh Frozen and FFPE Tissues
Date: Friday, October 17
Time: 2:30 PM - 4:30 PM
Author: Vivian Dien, PhD
Board #: 4036F
View poster →