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Blueprint Genetics

Blueprint Genetics, recently acquired by Quest Diagnostics in January, will base the 600-gene panel on its whole-exome sequencing capability.

News items for the week of Feb. 3, 2020.

The company expects that Blueprint's informatics capabilities in particular will improve variant interpretation and reporting across all its genetic test offerings.

Blueprint provides 3,900 targeted single-gene and more than 200 panel tests covering 14 medical specialties, leveraging NGS and bioinformatics methods.

The companies will combine clinical genetic testing services with data management technology to support precision medicine for rare diseases.

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.

The company recently switched its diseases gene panels to an exome-based platform and is preparing to open a CLIA laboratory in California.

The Washington Post reports that the CDC's SARS-CoV-2 test issues reflect earlier ones it had with Zika virus testing.

NPR writes that even with thousands of new COVID-19 papers, each should be evaluated based on its own quality.

Researchers traced a gene cluster linked to COVID-19 severity to Neanderthals, the New York Times reports.

In PNAS this week: soil bacteria-derived small molecules affect centrosomal protein, microfluidics approach for capturing circulating tumor cells, and more.