NHGRI researchers showed that they were able to extract more useful pharmacogenetic information from exome data than from current chip data.
A genetic testing utilization service launched by Stanford in 2015 helped cut the number of inappropriately ordered tests in half and saved about $250,000 during the first year.
Using whole-exome sequencing early in the diagnostic process could save $3,500 on average in patients who obtain a diagnosis from it and $1,700 in patients who do not.
Six percent of patients diagnosed by exome sequencing received more than one molecular diagnosis, which can be important for their clinical management.
A researcher with the Genome Analysis Center had his and his family's exomes sequenced and interpreted and found little overlap between different providers' analyses.
The software offers data processing and management capabilities that are designed to support more automated and efficient whole-exome sequencing-based testing.
Equipped with 10 Illumina HiSeq 2500s and one PacBio RSII, the Regeneron Genetics Center cranks out more than 1,200 exomes per week.
Through a parent-offspring trio exome sequencing study, University of Sydney researchers found 28 recessive and 17 de novo variants associated with amyotrophic lateral sclerosis.
Using an algorithm known as HotNet2, an international team has identified more than a dozen genetically altered sub-networks in thousands of tumor samples assessed for the Cancer Genome Atlas project.
In Science this week: metagenomic-based technique for determining protein structure, and more.
An academic laments the rise of narcissism in the sciences, the Guardian reports.
Outgoing FDA commissioner Robert Califf writes in an editorial that the agency can help boost innovation.
The Trump transition team has asked NIH Director Francis Collins to remain at his post, though it's unclear for how long that will be.