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rare disease

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.

As part of the collaboration, Belgium-based Diploid will integrate Genomenon's Mastermind genomic search engine into its Moon diagnostic software.

The UK informatics startup has received funding from Innovate UK to implement an informatics platform for physicians to identify patients for genomic testing.

This embargo-free strategy represents "an entirely new way of doing research" into rare pediatric cancers, where time is of the essence.

This Week in Nature

In Nature this week: large Alzheimer's disease GWAS uncovers novel loci, new CRISPR interference-based approach, and more.

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Two patients fell ill, and one subsequently died, following a fecal microbiome transplant that harbored multi-drug-resistant bacteria, according to the New York Times.

US National Institutes of Health Director Francis Collins says he will avoid male-only speaker panels.

Technology Review reports that eGenesis is testing whether organs from genetically modified pigs can be transplanted into monkeys.

In Science this week: almond reference genome, and more.