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Overcoming Challenges of Copy Number Variant Interpretation with QCI Interpret and the ACMG Guidelines for CNVs
Copy number variant (CNV) analysis has been part of clinical diagnostics for almost two decades. With the evolution of genomic technologies for CNV detection, we have learned that CNVs can r
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This illustration presents the hierarchical scale of genomic variation, highlighting how genetic changes can occur at multiple levels of the genome. At the largest scale, variations may involve entire chromosomes, encompassing tens to hundreds of millions of DNA bases. Moving to a finer resolution, copy number variations (CNVs) represent large segments of DNA that are duplicated or deleted, spanning thousands to millions of bases. At the gene level, sequence differences typically affect a few th
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