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.
New Mexico is re-doing its proposed science education standards after criticism, the Associated Press reports.
Agbio executives say gene editing will speed up breeding efforts, according to the Wall Street Journal.
La Trobe University's Jenny Graves has won the $250,000 Prime Minister's Prize for Science, the Guardian reports.
In Cell this week: post-treatment changes to melanoma genome, multi-omics analysis of muscle-invasive bladder cancer, and more.