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targeted sequencing

Two new studies revealed the prevalence of pathogenic variants in breast cancer-related genes, while highlighting genes that may be most informative in the clinic.

Since the commercial launch of its technology last year, the firm has been validating it in studies with academic groups and pharmaceutical companies.

The WHO and FIND are supporting NGS-based testing in low-resource settings, while a resistance testing program at New York State's Wadsworth Center has matured.

With clinical sequencing data for almost 400 appendiceal cancer cases, researchers identified somatic differences in individuals diagnosed with the disease before the age of 50.

Using a combination of genomic and epigenomic profiling, researchers spelled out super enhancer-based subtypes, including one linked to poor clinical outcomes.

The deal builds on a non-exclusive partnership signed in January 2019 and PierianDx will now support three more Illumina cancer sequencing assays.

The xT platform integrates structured clinical patient data with results from a 648-gene DNA panel and whole-transcriptome RNA sequencing.

The firm is also pursuing advances in its manufacturing and ordering processes that it says will help it scale to $500 million in annual revenues.

Total fiscal fourth quarter revenues more than doubled while the synthetic DNA maker's fiscal 2020 revenues grew 66 percent to $90.1 million.

Investigators diagnosed additional Mendelian conditions with copy number variant analyses on pediatric patients who remained undiagnosed after exome sequencing.

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Moderna reports its vaccine is effective against new SARS-CoV-2 strains, though it is also developing a booster, according to the New York Times.

A new analysis suggests the B.1.1.7 strain of SARS-CoV-2 could be deadlier than previous ones, according to the Guardian.

NPR reports Merck is halting the development of its two candidate SARS-CoV-2 vaccines following disappointing Phase 1 results.

In PLOS this week: gene mutation linked to inherited venous thrombosis, lncRNA patterns in the Asian tiger mosquito, and more.