Case Study: Children’s Hospital of Philadelphia discovers childhood epilepsy variants with Twist Bioscience custom panels

Children’s Hospital of Philadelphia improves epilepsy variant detection in 2-to-4-year-old patients with Twist custom panels

The Children’s Hospital of Philadelphia's Center for Applied Genomics faced the challenge of identifying genetic causes of childhood epilepsy using poor-quality, aged dry blood samples from remote areas of South America. To efficiently find disease-associated variants without costly whole-genome sequencing, they turned to Twist Bioscience for custom target enrichment panels.

Twist Bioscience provided concise, cost-effective custom panels that enabled high-performance capture and sequencing even from severely compromised samples. This solution allowed the researchers to successfully identify candidate epilepsy variants, accelerating diagnostics and potential treatments. The success with these challenging specimens has given the center confidence to extend the use of Twist panels to other difficult projects, directly contributing to their mission of saving children's lives through genomic discovery.

Children’s Hospital of Philadelphia