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pediatric disease

NSIGHT2 researchers surveyed the parents and doctors of sick babies to see how useful they found positive and negative findings from genome sequencing tests.

Among the study's aims is determining how rates of SARS-CoV-2 infection differ between healthy children and ones with asthma or other allergic conditions.

The insurer will cover testing at the Rady Children's Institute for Genomic Medicine for children in intensive care with unexplained medical conditions.

Nearly 3,500 patients were referred to the Roberts Individualized Medical Genetics Center for exome sequencing or other testing during the clinical program's first four years.

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.

Miami-based Nicklaus will send patient blood samples to Rady Children's in San Diego for WGS, bioinformatics analysis, and initial clinical interpretation.

2bPrecise is developing the needed ontology for its platform to enable clinicians to combine genomic and clinical data in their interactions with pediatric patients.