Mutations in the WDR26 gene appear to contribute to a condition marked by intellectual disability, facial dysmorphism, and movement problems.
The Mayo Medical Laboratories laboratory is offering mate-pair sequencing for cancer and inherited disease indications, with plans to expand the service.
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.
The US Food and Drug Administration has approved Kite Pharmaceuticals' CAR T-cell therapy for large B-cell lymphomas, the New York Times reports.
Kaiser Health News reports that gene therapies could cost more than a million dollars.
Worcester Polytechnic Institute researchers have received a grant to combine biology and computer science for high school students.
In Nature this week: variants associated with obsessive-compulsive disorder, review of key CRISPR enzymes, and more.