Two studies described de novo gene mutations involved in autism spectrum disorder and other neurodevelopmental conditions, while weeding out unrelated changes.
GeneDx said it will contribute patient data and analytical tools to the UK's Deciphering Developmental Disorders study.
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.
The New York Times looks at companies using genomic tools to try to quickly identify the cause of patients' infections.
The White House has asked for $2.5 billion in funding to address the COVID-19 outbreak, according to the Associated Press.
A resignation at the Marine Biological Laboratory highlights that institutions are unsure of how to handle researchers previously found to have violated codes of conduct, Nature News says.
In PNAS this week: immune responses that affect heart transplant rejection risk, gene variants associated with thiopurine toxicity, and more.