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.
In Nature this week: genomic analysis of the invasive fall webworm, amp of constrained coding regions within the human genome, and more.
A new analysis finds that nearly half the late-stage clinical trials sponsored by a US National Cancer Institute program influence patient care.
Technology Review reports that sickle cell patients are optimistic about gene editing to treat their disease, but are worried about how available it will be.
The owner of the GEDmatch website tells CBS12 he is considering charging law enforcement a fee to use the site.
In Nature this week: babies born by caesarean section are more likely to have altered gut microbiota profiles, and more.