pediatric disease

With panel sequencing data for more than 143,000 individuals, researchers characterized intragenic copy number variants in hundreds of monogenic disease genes.

Miami-based Nicklaus will send patient blood samples to Rady Children's in San Diego for WGS, bioinformatics analysis, and initial clinical interpretation.

Researchers identified rare, functionally disruptive variants in the voltage-gated sodium channel gene SCN4A in a small subset of SIDS cases.

Researchers saw clinically actionable heart disease mutations in fewer than 5 percent of sudden infant death syndrome cases interrogated by molecular autopsy.

Two new analyses have identified driver genes, altered pathways, mutational signatures, and other molecular features across two dozen cancer subtypes.

Part of the donation from the Hall Family Foundation and the Sunderland Foundationwill be used to expand the Center or Pediatric Genomic Medicine and to build a state-of-the-art genome center.

Fabric disclosed partnerships with Rady Children's Institute for Genomic Medicine, the Utah Genome Project, and Genomics England's 100,000 Genomes Project.

Researchers retrospectively analyzed data for 278 critically ill infants tested by clinical exome sequencing at a Texas hospital over five years.