Structural and quantitative chromosomal rearrangements, collectively referred to as
structural variation (SV), contribute to a large extent to the genetic diversity of the human …

Genetic variants, including single-nucleotide variants (SNVs) and copy number variants
(CNVs), in the non-coding regions of the human genome can play an important role in …

Genomic structural variants have long been implicated in phenotypic diversity and human
disease, but dissecting the mechanisms by which they exert their functional impact has …

A small number of rare, recurrent genomic copy number variants (CNVs) are known to
substantially increase susceptibility to schizophrenia. As a consequence of the low fecundity …

Many patients suffering from developmental disorders harbor submicroscopic deletions or
duplications that, by affecting the copy number of dosage-sensitive genes or disrupting …

The exon-junction complex (EJC) performs essential RNA processing tasks 1, 2, 3, 4, 5.
Here, we describe the first human disorder, thrombocytopenia with absent radii (TAR) 6 …

Background Duplications and deletions in the human genome can cause disease or
predispose persons to disease. Advances in technologies to detect these changes allow for …

Purpose: Copy number variants have emerged as a major cause of human disease such as
autism and intellectual disabilities. Because copy number variants are common in normal …

Abstract Chromosome region 1q21. 1 contains extensive and complex low-copy repeats,
and copy number variants (CNVs) in this region have recently been reported in association …

Abstract The DECIPHER database (https://decipher. sanger. ac. uk/) is an accessible online
repository of genetic variation with associated phenotypes that facilitates the identification …