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Array-CGH - Copy number variants - Phenotypic variability - Predisposition - Interpretation of CNV
Abstract:
Structural variants (SV) are defined as chromosomal changes larger than 1kb. Although technical progress has enabled improved characterization of the qualitative and quantitative features of SV, their phenotypic consequences remain poorly understood. Distinguishing between a neutral variant, a predisposing factor and a disease-causing aberration represents one of the major challenges in today’s human genetic diagnostics.
