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rare disease

Three papers published this week offer fine-grained detail about the Exome Aggregation Consortium's analysis and methods, showing the data's value in a specific use case.

The partners will evaluate various established research solutions including a number of variant calling methods for potential clinical use.

The current arrangement builds on an existing agreement signed last year that allowed Garvan to use DNAnexus' platform for its genomics activities.

The partnership stands to accelerate the Utah Genome Project, which aims to discover new disease-causing genes and advance tests by studying large families.

The investment, which will be paid out over the course of five years, comes in part from industry sources.

Spot for Information

Families and patients coping with very rare genetic diseases have a new website where they can seek information and, perhaps, a sense of community, NPR reports.

Cyclica will soon begin testing a commercial version of its services software this summer ahead of a full launch planned for next year.

The partners will generate and analyze disease-specific gene expression data to identify likely drug candidates for rare skin diseases.

The firm and the cancer center will work together to use genome information-based precision medicine for cancer research.

Envision offers commercial whole-genome sequencing and analysis services to hospitals and clinical labs interested in using WGS in clinical diagnostics.

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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.