exome sequencing

Regeneron Pharmaceuticals

Since 2015, the Regeneron Genetics Center has sequenced 250,000 exomes from phenotyped individuals, identifying "human knockouts" and other large-effect mutations.

Geisinger is hoping to help others around the country implement precision medicine, which requires significant investment in genomics expertise, as well as infrastructural and operational changes.

Using an integrated omics approach, researchers identified non-muscle invasive bladder cancer subtypes, along with pathways that are frequently altered in the disease.

Broad Institute and Dana-Farber Cancer Institute researchers have released the first annotated genomic data as part of a public data sharing effort in this disease. 

Researchers are now using the approach to allow genome-wide sequencing to monitor disease and to investigate treatment response and resistance without the need for tissue biopsy.

This Week in PLOS

In PLOS this week: circular RNAs in infantile hemangiomas, pathogenic mutations in Alzheimer's disease, and more.

This Week in Nature

In Nature this week: Armillaria fungal genomes; risk variants linked to asthma, eczema, and hay fever; and more.

Alterations affecting the antigen presentation-related gene B2M appeared to be over-represented in melanomas with checkpoint blockade non-response or resistance.

The project has identified carrier variants in 109 infants so far — a total of 232 variants in 166 genes — according to a presentation at ASHG today.

The study being conducted under the Genomes2People umbrella will explore how best to introduce genetic information into the routine care of active duty service members. 

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Researchers test gene therapy targeting a different cancer protein in a new trial, the New York Times reports.

Pennsylvania State University researchers found that salivary microRNAs could predict which kids would have longer concussion symptoms, according to NPR.

The Associated Press reports Alex Azar, the new Department of Health and Human Services secretary nominee, made millions of dollars as a pharmaceutical executive.

In PNAS this week: immune profiling of breast cancer, transposable element patterns in rice, and more.