Close Menu

hereditary disease

A genetic testing utilization service launched by Stanford in 2015 helped cut the number of inappropriately ordered tests in half and saved about $250,000 during the first year.

The researchers say their technique is most effective when used to replace regions of DNA up to 30 base pairs.

The company's 22q11.2 microdeletion test classified almost 0.5 percent of cases as high risk, among them at least 11 true positives and 50 false positives. 

The Saudi Arabian research team analyzed the autozygomes and exomes of 31 families and found a strong candidate variant in 90 percent of them.

A medical genetics practice's lawsuit against a government insurance administrator points to continued uncertainty about reimbursement for NGS testing in Germany.

Good Start will serve as an in-network laboratory partner for a variety of genetic screening tests.

Stephen Kingsmore

As president and CEO of the Rady Pediatric Genomics and Systems Medicine Institute, Kingsmore will be working toward adopting genomics to transform pediatric care.

The researchers increased the test's sensitivity for nucleotide variants from less than 96 percent to 99.5 percent and reduced the time to provisional results from 50 hours to 26 hours.

The companies are launching new clinical exome sequencing services called Exomax.

The software offers data processing and management capabilities that are designed to support more automated and efficient whole-exome sequencing-based testing.

Pages

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

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

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.

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