pediatric disease

The UK-based maker of clinical genomics interpretation software is moving into the US and China after carefully researching the differences from European markets.

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.

Victorian Clinical Genetics Services is one of two partners in Acute Care Genomics, which is testing DNA from critically ill infants and kids across Australia.

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.

With computing infrastructure in place, Nationwide Children's Hospital's Institute for Genomic Medicine is giving clinicians new tools for diagnosis and treatment.

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Hundreds of scientists have signed a letter criticizing the open-access Plan S, ScienceInsider reports.

NPR speaks with Rep. Eddie Bernice Johnson (D-Texas) about the US House of Representatives science committee.

A start-up company aiming to match cancer patients to treatments closes after about six weeks, Stat News reports.

In PLOS this week: somatic mutation associations unearthed in thousands of cancer exomes, pathogen detection assay, and more.