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.
The US Food and Drug Administration has approved Alnylam's RNAi-based therapy Onpattro, according to Stat News.
Harvard Medical School's Seth Cassel and Cigall Kadoch argue in a Baltimore Sun op-ed that the recent TAILORx trial shows the potential of genomic-based medicine.
Researchers in the UK are working on using gene drives to control malaria-carrying mosquitoes, the Telegraph reports.
In PLOS this week: genetic architecture mediating gene expression, metabolomic patterns in multiple myeloma, and more.