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.
John Mendelsohn, a former president of the University of Texas MD Anderson Cancer Center, has died, the New York Times reports.
Chinese state news agency Xinhua reports that a preliminary investigation has found He Jiankui performed his gene-editing work illegally.
Identical twins receive different estimates of ancestry from the same direct-to-consumer genetic testing firms, CBC reports.
In PNAS this week: chromosomal features of maize, adaptations in the vinous-throated parrotbill, and more.