A British team discovered 14 novel genes associated with developmental disorders in addition to several new disorders linked to known genes.
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.
The General Data Protection Regulation has slowed some data sharing with non-European researchers as they find ways to comply with the law, ScienceInsider reports.
A bioethicist from Abertay University uses a utilitarian approach to justify genetically modifying the human germline, the BBC reports.
The US has upgraded its network of public health labs to provide whole-genome sequencing to track antibiotic-resistant bacteria, Quartz reports.
In Science this week: approach to visualize 3D genome structure in single cells, RNA interference knockdown screens to examine genetic origins of beetle horns and insect wings, and more.