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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.

Howard Hughes Medical Institute will be requiring its researchers to publish their work so it is immediately accessible to the public, ScienceInsider writes.

The Huffington Post reports that Francis Collins, the director of the US National Institutes of Health, has urged Americans to recommit to reason.

About 150 million rapid coronavirus tests purchased by the US federal government are to be distributed to nursing homes, colleges, and the states, according to the New York Times.

In Nature this week: multi-omic analysis of Alzheimer's disease brain samples, de novo assembly of a diploid potato, and more.