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.
In PLOS this week: nasal microbial communities in asthma patients; sequencing-based way to detect, track schistosomiasis; and more.
The New York Times speaks with Vanderbilt's John Anthony Capra about Neanderthal genes in modern humans.
A draft guidance from the FDA suggests the agency wants to more tightly control gene-edited animals, according to Technology Review.
Researchers were among this weekend's protesters bemoaning the new US administration, Vox reports.