Researchers detected a truncating mutation in the carboxypeptidase E gene in members of a Sudanese family affected by extreme obesity, glucose metabolism problems, and other symptoms.
Using genome sequencing data on 30 Brazilians and genotyping information on almost 6,500 more, the Brazilian EPIGEN Project Consortium considered ancestry and admixture patterns in three parts of Brazil.
BGI said it will make more details about the BGISEQ-500 instrument available at the 10th International Conference on Genomics in Shenzhen in October.
A Mount Sinai-led team of researchers combined the technologies to generate de novo assemblies and get a better view of structural variations.
The $75,000 deposit converts into credit for consumables and workflows once participants have accepted the instrument.
In PNAS this week: ancestry and admixture in Brazilians, characterization of novel double-stranded RNA mycovirus, and more.
Researchers report that what scents someone picks up can reflect their complement of immune genes.
The New York Times examines ethics and China's push to lead biomedical research.
At her blog, Sally Rockey dives into National Institutes of Health funding data.
This online seminar will outline a recent example of the use of molecular barcoding in combination with next-generation sequencing to detect somatic mosaicism in cancer patients.