The study team demonstrated that this platform could reveal disease-causing genetic variants and provide molecular diagnoses for previously undiagnosed patients.

A new review describes the potential benefits and risks to children and adolescents and how these might vary over different age groups. Their findings have profound implications for parenting.

A Nature Genetics report from the Polygenic Risk Methods Development (PRIMED) Consortium and Children’s Hospital of Philadelphia (CHOP) calls for rethinking how researchers label human populations when developing polygenic risk scores (PRS), or the risk of developing certain diseases based on variations in a person’s genome.

MMFP-Tableau offers a readily generalizable solution to make research and clinical electronic health system data more accessible and impactful.

Researchers at Children’s Hospital of Philadelphia (CHOP) announced the results of a new study highlighting significant genetic links in speech and language disorders in children.

CHOP researchers have developed a computational tool to determine which cells in patient tumor samples receive mitochondria from T cells.

CHOP researchers have developed a versatile and low-cost technology for targeted sequencing of full-length RNA molecules.

CHOP and UCLA researchers have created a tool that can discover tumor antigens derived from alternative RNA splicing, expanding the pool of cancer immunotherapy targets.

Findings demonstrate how a new computational method could effectively analyze phenotypes and identify similarities among patient populations.

CHOP researchers have developed a new computational tool that can more accurately discover and quantify RNA molecules from these error-prone long-read RNA sequencing data.