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hereditary disease

Last year, Radboud University Medical Centre's genetics lab conducted about 6,000 diagnostic exome tests and ran 2,000 nex-gen sequencing-based BRCA1/2 hereditary cancer assays.

The project has recruited nearly half of the 1,000 families it plans to analyze and has completed the exome analysis for about 160.

ACMG said in a position statement that NIPS can replace conventional screening for Patau, Edwards, and Down syndrome in most women.

The WGS service will be provided by Genome.One, a new health information company owned by and based at the Garvan Institute of Medical Research in Sydney.

Last month, the foundation, in partnership with the Washington State Department of Health, released seven educational videos about prenatal testing.

Revisions to the reimbursement catalog went into effect July 1, but stakeholders are quarreling about a pre-authorization requirement in court.

Geisinger Health System's MyCode Community Health Initiative has signed up more than 100,000 participants and has returned results to about 100 patients.

Over the last half year, CeGaT lowered turnaround times and prices for its assays, and its lab recently passed CAP inspection.

The decision was made after Geisinger researchers and clinicians presented the health plan with evidence of the clinical utility of exome sequencing.

For many patients, the diagnosis led to a change in medical care or management, averted additional diagnostic tests, and facilitated family planning.

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A Harvard-led team reprogrammed DNA methylation patterns of mice with eye problems to restore their sight, AFP reports.

A man in India is suing the Serum Institute of India, saying that he suffered serious side effects from a vaccine it is testing, but the institute has rejected those claims, the Economic Times reports.

The New York Times reports Moderna is planning a clinical trial of its SARS-CoV-2 vaccine in children.

In Nature this week: Readfish tool for targeted nanopore sequencing, genomic diversity of barley and wheat, and more.