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.
In Nature this week: large Alzheimer's disease GWAS uncovers novel loci, new CRISPR interference-based approach, and more.
The New York Times highlights the Undiagnosed Disease Network.
In PLOS this week: Mycobacterium abscessus linked to gastric conditions, placental gene expression changes associated with preterm birth, and more.
The Guardian reports that UK universities are looking into ways to reduce labs' reliance on single-use plastics.
People with certain gene variants tend to not like vegetables, particularly bitter ones, CNN reports.
MIT's Technology Review reports on a company's genetic test that gauges an embryo's susceptibility to certain diseases.