A challenge in clinical genomics is to predict whether copy number variation (CNV) affecting
a gene or multiple genes will manifest as disease. Increasing recognition of gene dosage …

Rare copy number variations (CNVs) are a recognized cause of common human disease.
Predicting the genetic element (s) within a small CNV whose copy number loss or gain …

Copy number variants (CNVs) are thought to underlie many human developmental
abnormalities. However, it is unclear how many of these CNVs exert their pathogenic effects …

Structural variants (SVs) contribute to many disorders, yet, functionally annotating them
remains a major challenge. Here, we integrate SVs with RNA-sequencing from human post …

Copy number variations (CNVs) are implicated across many neurodevelopmental disorders
(NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to …

Abstract Background Copy number variants (CNVs) have been reported to be associated
with diseases, traits, and evolution. However, it is hard to determine which gene should have …

Human copy number variants (CNVs) account for genome variation an order of magnitude
larger than single-nucleotide polymorphisms. Although much of this variation has no …

Copy number variation (CNV), generated through duplication or deletion events that affect
one or more loci, is widespread in the human genomes and is often associated with …

While numerous studies have implicated copy number variants (CNVs) in a range of
neurological phenotypes, the impact relative to disease severity has been difficult to …

Neurodevelopmental disorders (NDDs) and congenital anomalies (CAs) are rare disorders
with complex etiology. In this study, we investigated the less understood genomic overlap of …