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.
NPR says the explosion and fire earlier this week at a Russian lab that stores dangerous pathogens revives the question of whether such samples should be kept.
According to Wired, Nebula Genomics is providing a way for people to get their genomes sequenced anonymously.
A 26-year-old woman tells Cosmopolitan about learning her APOE status at a young age.
In Science journals this week: a functional genomic screen uncovers drug combination that increases KRAS inhibitor efficacy in aggressive lung cancer, and more.