At the American College of Medical Genetics meeting, University of Washington researcher Jay Shendure outlined the progress that his team has made using exome sequencing to study both Mendelian and complex conditions.
The researchers from both studies said that their approaches will be useful for studying not only Mendelian diseases, but also more complex diseases.
Using Complete Genomics' human genome sequencing service, an American research team has identified mutations behind two inherited conditions within one family.
Researchers from the University of Washington and elsewhere have published their work on the use of exome sequencing to identify the gene affected in a rare Mendelian disease called Miller syndrome.
For Complete Genomics, which provided the sequencing data for ISB's study, the project provides the first independent validation of its sequencing service by an early-access customer.
Researchers find that a personalized medicine approach could help people who experience pain while taking statins, New Scientist reports.
US National Science Foundation is continuing its responsible research conduct training policy despite its flaws, ScienceInsider reports.
A CRISPR-themed meeting explored how the tool could and should be used, Wired reports.
In Science this week: database of proteins' effects on cancer, targeted error correction sequencing, and more.