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 UK-based maker of clinical genomics interpretation software is moving into the US and China after carefully researching the differences from European markets.
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 saw clinically actionable heart disease mutations in fewer than 5 percent of sudden infant death syndrome cases interrogated by molecular autopsy.
