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In a newly published paper, CHOP researchers described a method for rebuilding patient histories en masse to create gene-specific "footprints" in clinical records.
AMELIE demonstrated greater accuracy and speed than previous methods in suggesting relevant genetic variants for diagnosing monogenic disorders.
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 team characterized immune, viral load, and age differences in children with severe responses to respiratory syncytial virus using an integrated analytical strategy.
An analysis of almost 43,000 individuals under 17 years suggests polygenic scores for adult conditions such as depression may coincide with childhood psychopathology.
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.
Researchers used single-cell sequencing to uncover developing brain cell populations from mice and humans with transcriptome features resembling those in pediatric brain tumors.
A report from the NSIGHT2 trial compares the diagnostic and analytical performance of clinical whole-genome and exome sequencing on an infant cohort.
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.
Two COVID-19 vaccine developers have released their trial protocols to build public trust, the New York Times reports.
A new analysis finds the rapid COVID-19 test from DnaNudge to be highly accurate, Reuters reports.
In Science this week: global citizens' assembly on genome-editing technologies proposed, epigenetic markers predict metformin response, and more.
According to the Verge, many US states are not including positive results from rapid COVID-19 testing in their case numbers.