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pediatric disease

The partners will also collaborate on a study, to be peer reviewed, that will evaluate how insurance coverage of WGS affects patient care and healthcare costs.

Using a combination of genomic and epigenomic profiling, researchers spelled out super enhancer-based subtypes, including one linked to poor clinical outcomes.

An integrated proteogenomic analysis led to previously unappreciated treatment targets or prognostic markers in craniopharyngioma, high-grade glioma, and other tumor types.

A National Society of Genetic Counselors panel discussed whether healthcare providers are ready for whole-genome sequencing to be adopted as a first-line test.

Investigators diagnosed additional Mendelian conditions with copy number variant analyses on pediatric patients who remained undiagnosed after exome sequencing.

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

Within the KiCS study researchers found targetable mutations in more than half of the kids, but few actually received drugs based on those molecular markers.

The organizations will apply PacBio's HiFi sequencing to a rare disease cohort whose genomes have not yet yielded causal variants by other methods.

The effort, which will be the flagship project of the Children's Mercy Research Institute, aims to collect genomic data from 30,000 children and their families.

In a newly published paper, CHOP researchers described a method for rebuilding patient histories en masse to create gene-specific "footprints" in clinical records.

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Reuters reports that Germany is seeking to sequence 5 percent of patient samples that test positive for SARS-CoV-2.

23andMe and Medscape say primary care physicians are increasingly more comfortable with discussing direct-to-consumer genetic testing results.

The publisher of the Science family of journals will allow some authors to place peer-reviewed versions of their papers into publicly accessible repositories.

In Science this week: analysis of genome-wide association studies of chronic kidney disease, and more.