In the past decade, the view on genomic structural variation (SV) has been changed
completely. SVs, previously considered rare events, are now recognized as the largest …

Copy number variants (CNVs) are genomic rearrangements resulting from gains or losses of
DNA segments. Typically, the term refers to rearrangements of sequences larger than 1 kb …

Psoriasis is a common inflammatory skin disease with a strong genetic component. We
analyzed the genomic copy number polymorphism of the β-defensin region on human …

Background Previous studies have extensively documented antimicrobial and chemotactic
activities of beta-defensins. Human beta-defensin-2 (hBD-2) is strongly expressed in …

The human salivary amylase genes display extensive copy number variation (CNV), and
recent work has implicated this variation in adaptation to starch-rich diets, and in association …

Defensins represent an evolutionary ancient family of antimicrobial peptides that play
diverse roles in human health and disease. Defensins are cationic cysteine-containing …

Genome-wide association scans (GWASs) using single nucleotide polymorphisms (SNPs)
have been completed successfully for several common disorders and have detected over 30 …

Fanciulli M, Petretto E, Aitman TJ. Gene copy number variation and common human
disease. Variation in gene copy number is increasingly recognized as a common, heritable …

Plant genome diversity varies from single nucleotide polymorphisms to large-scale
deletions, insertions, duplications, or re-arrangements. These re-arrangements of …

Multiplex ligation‐dependent probe amplification (MLPA) is a commonly used technique for
determining relative DNA sequence dosage (or copy number) in a complex DNA sample …