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Inherited Disease

News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.

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 provided updates on its newborn screening testing presence.

The firm it plans to offer from time to time units of its common stock, preferred stock, one or more debt securities, warrants, or rights to such securities in one or more series.

The national project has developed infrastructure for implementing genomics into clinical care and is now studying clinical utility and cost effectiveness.

A new study catalogues the genome and evolutionary history of the oak family, UPI reports.

Dog DNA testing is a growing market, but there's still a lot of uncertainty about the accuracy of the results, the Boston Globe says.

A University of South Florida researcher is testing bone fragments to determine if they belong to Amelia Earhart.

In Cell this week: antisense Piwi-interacting RNA responses to endogenous retroviruses, proteomic patterns in hepatocellular carcinoma, and more.

Oct
24
Sponsored by
Sunquest

This webinar will tell the story of Versiti’s journey in transforming genetic testing from a manual to a digitized process. It will include detail on how the organization succeeded, pain points along the way, a novel approach to variant assessment, and future plans for the program.

Oct
31
Sponsored by
PerkinElmer

This webinar will provide an overview of how the Center for Applied Genomics at Children's Hospital of Philadelphia has optimized its next-generation sequencing (NGS) workflow using a combination of PerkinElmer's Sciclone automation technology and target capture chemistry from Twist Bioscience.