Researchers at Scripps Translational Science Institute and the University of California, San Diego, found that creating two libraries with different insert sizes was the best way to detect structural variation, while the amount of sequencing needed to detect any given transcript follows a distribution curve.
Participants at a recent conference agreed that the cost of whole-genome sequencing will eventually reach a point that makes exome sequencing obsolete, but there was little agreement over what that crossover price might be, or when it will be attainable.
The study, published in Nature Biotechnology, found that RainDance Technologies' microdroplet-based PCR technology was more scalable than standard PCR for sequence enrichment, with comparable sensitivity and accuracy.
In an opinion article in Nature today, a group of J. Craig Venter Institute and Scripps Translational Science Institute researchers say they found discrepancies in results from two DTC genetics companies, prompting them to offer a set of recommendations to improve such tests.
Navigenics decided to acquire Affy’s 10,000-square-foot Clinical Services Lab in Sacramento, Calif., after seeing an increase in the volume of orders for its genetic screening service. In addition to the advantages of having an internal CLIA lab, however, the consumer genomics firm will now have to navigate a complex regulatory environment.
Speakers at the Future of Genomic Medicine conference tempered their enthusiasm about the field by highlighting a number of obstacles standing in the way of making whole-genome studies a standard part of medical care.