Poster: Improved sequencing of difficult regions reduces variant calling errors

Short-read sequencing is the workhorse of clinical genomic research, but GC-extreme regions and structured sequence contexts still limit variant detection. Learn how an improved sequencing chemistry reduces sequence-context-dependent errors. 

What you’ll learn 

• How the chemistry reduces small-variant errors.
• Where the biggest gains show up: GC-skewed regions and sequence contexts tied to secondary structure, including G-quadruplex motifs.
• Benchmarking across all seven genomes, clinical research samples with challenging variants such as high-GC repeat expansions, and a rare disease cohort from Genetic Alliance’s iHope program.