HUG's genetic medicine arm will use Saphetor's software and variant knowledgebase in clinical projects focused on developmental and neurological disorders.
Exome sequences from thousands of parent-child trios led to 10 new genes in which de novo mutations are over-represented in individuals with intellectual disability.
Researchers diagnosed almost 70 percent of the neurometabolic cases they tackled, using exome sequence data for dozens of affected children and their families.
Through exome sequencing, researchers have uncovered a new neurodevelopmental syndrome and the gene behind it.
The Geisinger Health System team found 241 genes, including 17 new ones, which could be related to autism, schizophrenia, and other disorders.
Using genome, exome, and other data, researchers provide evidence for a Fanconi anemia subtype characterized by de novo, dominant negative mutations in RAD51.
Researchers uncovered excess de novo mutations in heart- and brain-related genes in congenital heart disease cases with neurodevelopmental and other features.
By genome and targeted sequencing on six children with Roifman syndrome, researchers identified compound heterozygous mutations in the RNU4ATAC small nuclear RNA gene.
The research will focus on the genetic factors behind the variable phenotypes observed in patients with developmental brain disorders such as schizophrenia and autism.
A Wellcome Trust Sanger Center-led team used a novel statistical approach to uncover four recessive developmental disorders.
In Nucleic Acids Research this week: nanopore sequencing workflow to detect antibiotic resistance in gut microbes, TSSPlant tool, and more.
Because gene-edited organisms can cross borders, Gizmodo wonders whether there should be an international body to govern their use.
HHS Secretary nominee Tom Price is to go in front of the Senate Committee on Health, Education, Labor and Pensions today, NPR's Morning Edition reports.
Prior to being closed, Theranos' Arizona lab failed an inspection by regulators, according to the Wall Street Journal.