The company hopes to convert biopharma customers to increasingly comprehensive approaches, and intends to branch out further with blood-based exome sequencing next year.
Researchers analyzed more than 550 new and previously sequenced exomes for individuals from African rainforest hunter-gatherer and farming populations, searching for local adaptations.
The national project has developed infrastructure for implementing genomics into clinical care and is now studying clinical utility and cost effectiveness.
With exome sequences for tens of thousands of Finns, researchers identified deleterious variants linked to dozens of clinically relevant quantitative traits.
An international team documented TP53 mutation-related genomic changes across dozens of cancer types using data generated with five platforms for the Cancer Genome Atlas project.
Though some experts prefer the comprehensive nature of whole-genome sequencing, others find whole-exome sequencing or targeted exome panels to be more useful.
Based on exome and genotyping data for almost 200 Nunavik Inuit, researchers retraced the population's ancestry, relationship, adaptations, and aneurysm risk.
In a point-counterpoint in the Boston Globe, researchers discuss the potential of gene editing to prevent Lyme disease, but also the pitfalls of doing so.
