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whole-genome sequencing

The test is the first whole-genome-based cancer test to receive approval from New York State's Department of Health.

Rady Children's will provide rapid WGS as a first-line diagnostic test for newborns in the intensive care unit at four participating hospitals in California.

The framework, called HEAL, could be used as an early screening test for AAA and as a personal health management tool. In addition, it may be applicable to other complex diseases.

NYSDOH's move away from susceptibility testing for isolates that are known to be pan-susceptible will be coordinated with similar international efforts.

Heidi Rehm

To nudge genetic testing labs to share their variant data, MGH now requires that labs to which it sends tests to contribute variants to the ClinVar database.

Diagnostic WGS will be centralized and performed at the same Genomics England facility used in the 100,000 Genomes Project.

Seventy-eight percent of participants had at least one positive carrier screening result and 3.5 percent had a medically actionable secondary finding.

The Hartwig Medical Foundation currently sequences about 7.5 percent of all metastatic cancer biopsies in the Netherlands, processing 250 to 300 samples per month.

In a training subset of the larger cohort, the company was able to develop classifiers that detected many cancers while minimizing false positives.

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

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