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 describe a way to share data while keeping it secure, Agence France Presse reports.
In Science this week: genetic mutations typically associated with esophageal cancer are common in older, healthy individuals, and more.
India's Council of Scientific and Industrial Research has a new director-general, according to ScienceInsider.
A new study links more than a hundred genes to autism spectrum disorder, Discover's D-brief blog reports.