The clinical context of copy number variation in the human genome

摘要: During the past five years, copy number variation (CNV) has emerged as a highly prevalent form of genomic variation, bridging interval between long-recognised microscopic chromosomal alterations and single-nucleotide changes. These segmental differences among humans reflect dynamic nature genomes, account for both normal variations us that predispose to conditions medical consequence. Here, we place CNVs into their historical contexts, focusing on how these can be recognised, documented, characterised interpreted in clinical diagnostics. We also discuss they cause disease or influence adaptation an environment. Various exemplars are drawn out illustrate salient characteristics residual enigmas CNVs, particularly complexity data information associated with relative variation. The potential is immense explain predict disorders traits have long resisted understanding. However, creative solutions needed manage sudden overwhelming burden expectation laboratories clinicians assay interpret complex awareness permeates practice. Challenges remain understanding relationship changes phenotypes might predicted prevented by such knowledge.