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rare disease

Now in its second year, the grants challenge will award $650,000 in technologies and services for rare disease research.

The company hopes to sequence about 60,000 whole genomes, and genotype 100,000 individuals to accelerate clinically relevant discoveries.

Genomics plc will analyze de-identified genomics data for the consortium to inform pharmaceutical research and development investment decisions.

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.

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Researchers tie a variant in ADAMTS3 to breathing difficulties in dissimilar dog breeds, according to Discover's D-brief blog.

The Japan Times reports that researchers sequenced the genome of a woman who lived during the Jomon period.

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

In Science this week: single-nucleus RNA sequencing of brain tissue from individuals with autism, and more.