With machine learning and clinical natural language processing, the team has come up with more automated methods to do provisional diagnoses on children with genetic disease.
A new study finds that the majority of patients at a Tijuana clinic received a diagnosis after first-line genome sequencing, the San Diego Union-Tribune reports.
The projects are organized by the Eliminate Cancer Initiative, the National Brain Tumor Society, and the Pediatric Brain Tumor Foundation.
The prospective, multi-site clinical trial will evaluate the clinical utility of unbiased sequencing for identifying pathogens in suspected CNS infections.
Rady Children's will provide rapid WGS as a first-line diagnostic test for newborns in the intensive care unit at four participating hospitals in California.
The groups will conduct a study evaluating the benefits of targeted next-generation sequencing in the diagnosis and care of infants with genetic disorders.
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.
The institute will use the funds to continue combining genomic and digital technologies with bioinformatics to advance medical research and clinical care.
Miami-based Nicklaus will send patient blood samples to Rady Children's in San Diego for WGS, bioinformatics analysis, and initial clinical interpretation.
Only three out of 10 sequencing workflows detected all variants in a synthetic reference sample, according to a study presented at ACMG.
The American Prospect writes that the pilot program to test the DNA of migrants could lead to more family separations.
An international commission is to develop a report on how researchers, clinicians, and regulators should evaluate the clinical applications of human germline genome editing.
The US Department of Agriculture presents a new blueprint for animal genomic research.
In Genome Research this week: repetitive element deletion linked to altered methylation and more in form of muscular dystrophy; human contamination in draft bacterial and archaeal genomes; and more.