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rare disease

A new study in Science used allele-specific expression data to find candidate genes that may have contributed to mendelian muscle disease in patients.

The company was originally founded as a spinoff from Korean genomic services provider Macrogen to offer direct-to-consumer genomic rare disease screening tests.

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.

A New York Genome Consortium-led team plans retrospective and prospective analyses on very rare cancers in the hopes of improving treatment options available for patients.

The testing programs are financially supported by the drugmakers, and will allow Invitae to provide free testing and genetic counseling for rare inherited retinal disease and primary immunodeficiencies.

In patients with a range of rare diseases, RNA sequencing in blood had a 7.5 percent diagnostic rate and identified candidate genes in 16.7 percent of cases.

Silence Therapeutics aims to use the database to help identify new drug targets, as well as for patient recruitment and stratification in clinical trials.

Parents of children with rare genetic disease have to contend with shifts in the interpretation of genetic variants, the Wall Street Journal reports.

The Genomics4RD platform is focused on data harmonization from research collaborations across Canada, but its developers are eyeing a future in the clinical market.

Centogene said it will conduct molecular diagnostic testing using deletion/duplication analysis and full-length sequencing of the DMD gene.

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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.