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.
James Wyngaarden, the former director of the US National Institutes of Health, has died at 94, according to Duke University School of Medicine.
The Associated Press reports that a state board in Texas has asked ANDE, a maker of rapid DNA machines, to halt its work there.
Researchers find that a 30-year-old skull comes from a narwhal-beluga hybrid, according to Science News.
In Nature this week: study of value diversity in GWAS, Epstein-Barr virus subtypes linked to nasopharyngeal carcinoma risk, and more.