… medical consequence. Here, we place CNVs into their historical and medical contexts, focusing
on how these variations … , characterised and interpreted in clinical diagnostics. We also …

… of genetic variation are copy number variants (CNVs), a class of unbalanced structural variants
… of the clinical relevance of a CNV in the context of TADs. It allows to input a chromosome …

… for medical decision‐making and to explore complex clinical … in the clinical interpretation of
certain copy number variants (… , and guide array design for optimal clinical utility. To address …

… More recently, germline and somatic copy number variation … methods available for measuring
copy number variants (CNVs) in … In the context of autoimmune disease, it is also of interest …

Molecular methods, by which copy number variants (CNVs) detection is available, have
been gradually introduced into routine diagnostics over the last 15 years. Despite this, some …

… of large structural variants and copy number variants (CNVs) encapsulating the regions
targeted by WES and custom gene panel assays have proved challenging in a clinical context. …

… The highly increased risk of developing neurodevelopmental phenotypes associated with
some of these CNVs makes them an unavoidable element in the clinical context in paediatrics, …

… Background Despite abundant evidence for pathogenicity of large copy number variants (CNVs) …
of genome-wide rare CNVs <500 kb has not been well elucidated in a clinical context. …

… Exactly what test to order depends on the clinical context and on the availability and cost
of technologies. We offer the following general considerations. First, consultation with a …

… This study uses uniform measures to detect and assess CNVs within the context of genomic
… of structural variants in the contexts of human variation, disease susceptibility, and clinical …