While copy number variation (CNV) is an active area of research, de novo mutation rates
within human populations are not well characterized. By focusing on large (> 100 kbp) …

Copy number variants (CNVs) account for a major proportion of human genetic
polymorphism and have been predicted to have an important role in genetic susceptibility to …

Copy number variants (CNVs) contribute to human genetic and phenotypic diversity.
However, the distribution of larger CNVs in the general population remains largely …

Copy-number variation (CNV) is the most prevalent type of structural variation in the human
genome, and contributes significantly to genetic heterogeneity. It has already been …

To assess the relative impact of inherited and de novo variants on autism risk, we generated
a comprehensive set of exonic single-nucleotide variants (SNVs) and copy number variants …

Rare mutations, including copy-number variants (CNVs), contribute significantly to autism
spectrum disorder (ASD) risk. Although their importance has been established in families …

Although germline de novo copy number variants (CNVs) are known causes of autism
spectrum disorder (ASD), the contribution of mosaic (early-developmental) copy number …

Autism arises in high and low-risk families. De novo mutation contributes to autism incidence
in low-risk families as there is a higher incidence in the affected of the simplex families than …

Individuals with autism are more likely to carry rare inherited and de novo copy number
variants (CNVs). However, further research is needed to establish which CNVs are causal …

Copy number variants (CNVs) are suggested to have a widespread impact on the human
genome and phenotypes. To understand the role of CNVs across human diseases, we …