Thousands of parent-child exomes helped researchers identify apparently causative mobile element insertions in a handful of children with developmental disorders.
Functional analyses indicated that the de novo variant in AP2M1 found in four patients affects clathrin-mediated endocytosis and synaptic vesicle recycling.
Investigators used gene panel sequence data to look at rare de novo variant frequencies in potential risk genes for neurodevelopmental disorders with epilepsy.
By sequencing several individuals with unexplained pancreas and brain development problems, investigators identified a recurrent missense mutation in the CNOT1 gene.
Common non-coding variants, along with rarer coding alterations, appear to contribute to a developmental disease with bowel and other gastrointestinal symptoms.
The clinical genome-wide DNA methylation test can diagnose genetic diseases that are missed by exome or genome sequencing and evaluate variants of unknown significance.
By partnering with telehealth provider PWNHealth, Lineagen wants to help children on the autism spectrum start treatment faster and qualify for more benefits.
Researchers were able to classify 1,244 of 4,585 putatively clinically relevant rare variants genotyped on the UKB microarray as high quality.
Lineagen hopes to use PWNHealth's consumer-oriented model to expand access to its testing services for developmental delay and autism spectrum disorder.
Researchers found 253 candidate disease genes, based on 10,927 exomes from patients with autism spectrum disorder, developmental delay, or intellectual disability.
A Harvard University professor has been charged with making false claims regarding funds he received from China, the New York Times reports.
Discover magazine reports that animal dissections might dissuade students from science careers, but that a firm has developed synthetic frogs for dissections.
Nature News reports that a US panel is reviewing current guidelines for federally funded gain-of-function viral research.
In PNAS this week: de novo mutation patterns among the Amish, an alternative RNA-seq method, and more.