Abstract
Chromosomal aberrations that include structural variations (SVs), copy number variations (CNVs), and tandem repeat expansions/contractions are major causes of human genetic disorders. Current cytogenetic methods that are routinely employed for the detection of SVs and CNVs are low resolution (karyotype), targeted and require prior knowledge (FISH), or cannot detect balanced SVs and orientation of duplicated segments of genome (chromosomal microarrays). Repeat array analysis methods are time-consuming and have low accuracy (southern blotting) or low dynamic range (PCR, NGS).
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