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rare disease

The company will use the proceeds from the round to invest in sales and marketing efforts for its Sapientia clinical genome analysis platform, as well as for R&D.

The company, a spinoff from genomics service provider Macrogen, plans to offer patients an exome test that screens for more than 4,000 rare diseases.

Marshall Summar

The new institute plans to use structured clinical information to inform targeted testing in order to cut down the time to diagnosis.

The results begin to adress questions about whether the company's meticulous, but costly research services can actually impact patient outcomes.

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.

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A New Zealand minister says the country's genetic modification laws need to be re-examined to help combat climate change, the New Zealand Herald reports.

A new analysis finds some cancers receive more nonprofit dollars than others.

An Australian mother's conviction in the deaths of her children may be re-examined after finding that two of the children carried a cardiac arrhythmia-linked gene variant.

In Science this week: comparative analysis of sex differences in mammal gene expression, and more.