Close Menu

hereditary disease

The company announced this week the expansion of a genetic testing program for US patients with inherited retinal disease that it has run with partners since 2017.

Under the agreement, the companies plan to offer combined genetic and biochemical testing services out of Blueprint's clinical laboratory in Seattle.

Researchers found that 14 percent of individuals with metastatic breast cancer had risky mutations germline mutations, including patients who did not meet testing criteria.

The company is hoping to add outreach to make sure individuals who want counseling get it, and to better understand the reasons why others might not.

Startup AiLife Diagnostics is contributing its NGS analysis, interpretation, and reporting pipelines to BGI's $600 DNBseq WGS assay.

In a clinical study Baylor researchers found that PreSeek, which Natera markets as Vistara, reliably detected dominant disorders in more than 400 pregnancies.

The firm's fourth quarter preliminary revenues increased by 11 percent to $865 million year over year, while full-year revenues jumped by 21 percent to $3.3 billion.

The planned product, which will target drug-development companies, uses machine learning techniques to predict the outcomes and likelihood of success of clinical trials.

Early results from preemptive genomic testing are raising questions about the prevalence and penetrance of pathogenic variants, and who is pursuing such testing.

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.

Pages

A South African university has told the Wellcome Sanger Institute to return DNA samples it has from indigenous African communities, The Times reports.

The University of California, Berkeley's Rasmus Nielsen and Xinzhu Wei have retracted their CCR5 gene paper due to a technical artifact.

 

University of Virginia researchers are exploring a genetic risk test to gauge type 1 diabetes risk, NPR reports.

In PNAS this week: researchers compare two high-grade neuroendocrine lung cancers, height among ancient Europeans, and more.