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.
Magdalena Skipper, the incoming editor-in-chief of Nature, speaks with NPR's Weekend Edition Sunday.
Genetic genealogy has led to an arrest in another cold case, dating back to 1987.
In PLOS this week: mutation in second gene widens clinical symptoms of people with ADD3 mutations, comparative genomic analysis of Pseudovibrio, and more.
Wired reports that 23andMe is trying to bolster its outside collaborations.