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Genomics Research Center Discovers Sources of Epilepsy

Twist Custom Panels allow researchers at the Center for Applied Genomics at the Children’s Hospital of Philadelphia to focus on important, medically relevant genes instead of being forced to work with a whole genome.

Genomics Research Center Discovers Sources of Epilepsy

Twist Custom Panels allow researchers at the Center for Applied Genomics at the Children’s Hospital of Philadelphia to focus on important, medically relevant genes instead of being forced to work with a whole genome.

/sites/default/files/2019-10/CaseStudy_NGS_CustomPanelChildhoodEpilepsy_22Jan19.pdf

 

In this case study, you’ll learn how:

 

  • Genetic tests for epilepsy in children by the Center for Applied Genomics at the Children’s Hospital of Philadelphia lead to faster, effective treatments

  • A Brazilian team provided a list of genes they wanted to examine for epilepsy-associated variants, as well as for structural variants for early onset epilepsy panels

  • Twist Custom Panels permit a focus on important, medically relevant genes instead of forcing work upon a whole genome

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About Children’s Hospital of Philadelphia

Children's Hospital of Philadelphia (CHOP) is the nation's first hospital devoted exclusively to the care of children. Since our start in 1855, CHOP has been the birthplace for countless breakthroughs and dramatic firsts in pediatric medicine. Built on a foundation of delivering safe, high-quality, family-centered care, the Hospital has fostered medical discoveries and innovations that have improved pediatric healthcare and saved countless children’s lives.