Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder
Copy number variation (CNV) is an important determinant of human diversity and plays
important roles in susceptibility to disease. Most studies of CNV carried out to date have …
important roles in susceptibility to disease. Most studies of CNV carried out to date have …
Transmission disequilibrium of small CNVs in simplex autism
We searched for disruptive, genic rare copy-number variants (CNVs) among 411 families
affected by sporadic autism spectrum disorder (ASD) from the Simons Simplex Collection by …
affected by sporadic autism spectrum disorder (ASD) from the Simons Simplex Collection by …
Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders
Copy-number variants (CNVs) are a major contributor to the pathophysiology of autism
spectrum disorders (ASDs), but the functional impact of CNVs remains largely unexplored …
spectrum disorders (ASDs), but the functional impact of CNVs remains largely unexplored …
De novo rates and selection of large copy number variation
A Itsara, H Wu, JD Smith, DA Nickerson… - Genome …, 2010 - genome.cshlp.org
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) …
within human populations are not well characterized. By focusing on large (> 100 kbp) …
[HTML][HTML] A comprehensive workflow for read depth-based identification of copy-number variation from whole-genome sequence data
B Trost, S Walker, Z Wang… - The American Journal of …, 2018 - cell.com
A remaining hurdle to whole-genome sequencing (WGS) becoming a first-tier genetic test
has been accurate detection of copy-number variations (CNVs). Here, we used several …
has been accurate detection of copy-number variations (CNVs). Here, we used several …
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism
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 …
variants (CNVs). However, further research is needed to establish which CNVs are causal …
Global increases in both common and rare copy number load associated with autism
S Girirajan, RL Johnson, F Tassone… - Human molecular …, 2013 - academic.oup.com
Children with autism have an elevated frequency of large, rare copy number variants
(CNVs). However, the global load of deletions or duplications, per se, and their size, location …
(CNVs). However, the global load of deletions or duplications, per se, and their size, location …
A discovery resource of rare copy number variations in individuals with autism spectrum disorder
The identification of rare inherited and de novo copy number variations (CNVs) in human
subjects has proven a productive approach to highlight risk genes for autism spectrum …
subjects has proven a productive approach to highlight risk genes for autism spectrum …
Large mosaic copy number variations confer autism risk
MA Sherman, RE Rodin, G Genovese, C Dias… - Nature …, 2021 - nature.com
Although germline de novo copy number variants (CNVs) are known causes of autism
spectrum disorder (ASD), the contribution of mosaic (early-developmental) copy number …
spectrum disorder (ASD), the contribution of mosaic (early-developmental) copy number …
Detection of clinically relevant copy number variants with whole‐exome sequencing
Copy number variation (CNV) is a common source of genetic variation that has been
implicated in many genomic disorders. This has resulted in the widespread application of …
implicated in many genomic disorders. This has resulted in the widespread application of …