Researchers compared three open source annotation tools, and also looked at correspondence with public databases, identifying a number of stumbling blocks.
The team is making several improvements to its MyGene2 platform portal in an attempt to encourage open sharing of genomic data.
The company submitted more than 95,000 recently re-curated variants identified in more than 1,500 genomes sequenced in Illumina's Clinical Services Laboratory.
Two new Nature Communications studies underscored the need for better genomic studies of populations of non-European ancestry.
In Science this week: genetic target for urothelial bladder cancer treatment, and more.
At the Conversation, the University of Oxford's Michael Macklay writes that learning genetic risk of disease is a personal decision.
Two dozen scientific organizations have endorsed the March for Science, according to ScienceInsider.
Researchers in Japan describe a chimpanzee with a chromosomal abnormality similar to human Down syndrome, Mashable reports.