Single-cell sequencing is a powerful approach that can detect genetic alterations and their
phenotypic consequences in the context of human development, with cellular resolution …

Causal loss-of-function (LOF) variants for Mendelian and severe complex diseases are
enriched in'mutation intolerant'genes. We show how such observations can be interpreted in …

The cellular complexity of the human brain is established via dynamic changes in gene
expression throughout development that is mediated, in part, by the spatiotemporal activity …

Biological mechanisms underlying human germline mutations remain largely unknown. We
statistically decompose variation in the rate and spectra of mutations along the genome …

Background Autism spectrum disorder (ASD) is characterized as a neurodevelopmental
disorder, and one of the main hypotheses regarding its cause is genetic factors. A previous …

Obsessive-compulsive disorder (OCD) is a chronic anxiety disorder with a substantial
genetic basis and a broadly undiscovered etiology. Recent studies of de novo mutation …

De novo mutations cause a variety of neurodevelopmental disorders including autism.
Recent whole genome sequencing from individuals with autism has shown that many de …

Missense de novo variants (DNVs) and missense somatic variants contribute to
neurodevelopmental disorders (NDDs) and cancer, respectively. Proteins with statistical …

The prevalence of autism spectrum disorder (ASD) is increasing worldwide. Youngsters with
ASD demonstrate higher rates of intellectual disabilities (IDs), comorbid psychopathology …

Whole-exome and whole-genome sequencing studies in autism spectrum disorder (ASD)
have identified hundreds of thousands of exonic variants. Only a handful of them, primarily …