Researchers used exome data for more than 123,000 individuals to map "constrained coding regions," where disease-related variants are over-represented.
The endorsement is the agency's first through the Human Variant Database Program, for which it released final guidance earlier this year.
To nudge genetic testing labs to share their variant data, MGH now requires that labs to which it sends tests to contribute variants to the ClinVar database.
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.
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.