… The identification of rare inherited and de novo copy number variations (CNVs) in human
subjects … Our objective was to discover new CNVs in ASD cases that were not detected by SNP …

We present a database of copy number variations (CNVs) detected in 2026 disease-free
individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, …

DNA copy number variation has long been associated with specific chromosomal …
variation is still developing, it seems likely that, at least in humans, copy number variants (…

… Recent studies have shown that copy number variations (CNVs) are frequent in higher
eukaryotes and associated with a substantial portion of inherited and acquired risk for various …

… clone DNA microarray covering the entire human genome in tiling path resolution that we have
used to identify copy number variation … identification of copy number variants (CNVs). The …

… of theoretical mutation rates have identified a number of novel disease-causing genes [4]. …
for copy number variations (CNVs), another class of important disruptive genetic variation. …

… Copy-number variants (… copy number, we calculate the likelihood of the observed TReC
and the ASReC from the estimated expected TReC for each possible underlying copy number. …

… SVs (that is, copy number variants) based on whole genome DNA sequencing data from
185 human genomes, integrating evidence from complementary SV discovery approaches with …

… Here, we provide an example of how to discover new CNVs from existing genotype data
from large-scale genetic epidemiological studies. We also discuss the need to expand surveys …

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 …