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

Remote enhancers are thought to interact with their target promoters via physical proximity,
yet the importance of this proximity for enhancer function remains unclear. Here we …

Genome-wide analysis methods, such as array comparative genomic hybridization (CGH)
and whole-genome sequencing (WGS), have greatly advanced the identification of structural …

Background Studies have shown that complex structural variants (cxSVs) contribute to
human genomic variation and can cause Mendelian disease. We aimed to identify cxSVs …

The potential impact of structural variants includes not only the duplication or deletion of
coding sequences, but also the perturbation of noncoding DNA regulatory elements and …

Abstract Copy Number Variants (CNVs) are deletions, duplications or insertions larger than
50 base pairs. They account for a large percentage of the normal genome variation and play …

Genome sequencing (GS) can identify novel diagnoses for patients who remain
undiagnosed after routine diagnostic procedures. We tested whether GS is a better first-tier …

Definitive molecular diagnoses in disorders apparently due to genetic or genomic defects
are still lacking in a significant number of investigated cases, despite use of studies …

The increase in sequencing capacity, reduction in costs, and national and international
coordinated efforts have led to the widespread introduction of next-generation sequencing …

Abstract Copy Number Variants (CNVs) are an important cause of rare diseases. Array-
based Comparative Genomic Hybridization tests yield a∼ 12% diagnostic rate, with∼ 8% of …