Copy Number Variation: Methods and Clinical Applications

Gains and losses of large segments genomic DNA, known as copy number variants (CNVs) gained considerable interest in clinical diagnostics lately, particular forms may lead to inherited genetic diseases. In recent decades, researchers developed a wide variety cytogenetic molecular methods with different detection capabilities detect clinically relevant CNVs. this review, we summarize methodological progress from conventional approaches current state the art techniques capable detecting CNVs few bases up several megabases. Although rapid sequencing has enabled precise CNVs, determining their functional effect on cellular whole-body physiology remains challenge. Here, provide comprehensive list databases bioinformatics tools that serve useful assets for researchers, laboratory diagnosticians, geneticists facing challenge CNV interpretation.