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The Geisinger National Precision Health Initiative ended in 2019 but its leaders joined Genome Medical to bring genomics-informed care to other health systems.
Blueprint provides 3,900 targeted single-gene and more than 200 panel tests covering 14 medical specialties, leveraging NGS and bioinformatics methods.
Researchers in the US and the United Arab Emirates found that RNA-seq in B-lymphoblastoid cell lines can help identify pathogenic variants that DNA testing missed.
The German company reported its quarterly earnings for the first time as a public company, following the completion of its IPO on Nov. 7.
The company said three clinical centers have validated the test in a prospective clinical trial involving more than 10,000 participants.
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.
Following discrimination allegations, NICHD's Constantine Stratakis withdraws from a new position at the Research Institute of the McGill University Health Center, Science reports.
US President Donald Trump has threatened to cut World Health Organization funding over its pandemic response, which would affect its ability to do its work and which he might not be able to do.
The US Securities and Exchange Commission has halted the sales of a handful of stocks over claims made about the coronavirus.
In Nature this week: comparative analyses of single-cell RNA sequencing protocols uncover differences between approaches, and more.