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.
The effort, outlined in a Development Cell paper published online today, aims to complement the ongoing Human Cell Atlas initiative, but with a focus on pediatric health.
The study, which is recruiting 1,130 children with undiagnosed genetic diseases, is testing two web-based interactive tools.
This embargo-free strategy represents "an entirely new way of doing research" into rare pediatric cancers, where time is of the essence.
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.
23andMe and Airbnb have partnered to offer "heritage travel," according to Venture Beat.
China may include regulations protecting genes and embryos in its update of its civil code, Nature News reports.
In Nature this week: exome sequence analysis of individuals with type 2 diabetes, genomic prediction of maize yield across environments, and more.
NPR reports on efforts to engineer bacteriophages to destroy antibiotic-resistance bacteria.