pediatric disease

An analysis has found that the odds of getting a diagnosis through WES or WGS is 8.3 times greater than it is through chromosomal microarrays.

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.