Presentation — A PCR-free approach for detecting pathogenic repeat expansions with short-read sequencing

Pathogenic repeat expansions drive more than fifty monogenic disorders, but traditional short-read methods often miss them. In this on-demand session, Rebecca Barnard, PhD, Twist Bioscience, shares a new PCR-free hybrid capture strategy that overcomes amplification bias and enables confident detection of expanded alleles within targeted and exome workflows.

Watch to learn:

• How this PCR-free hybrid capture workflow preserves unbiased representation of repetitive regions

• How custom spike-in panels enable detection of C9orf72, DMPK, FXN, FMR1, ATXN genes, and more

• When this method can replace whole-genome or long-read applications