To develop and validate VisCap, a software program targeted to clinical laboratories for inference and visualization of germ-line copy-number variants (CNVs) from targeted next-generation ...

Figure. Variations were previously thought to occur mainly at the level of single base pairs of DNA. However, numerous submicroscopic chromosomal changes involving more than 1000 to half a million or ...

Copy number variation (CNV) affecting protein-coding genes contributes substantially to human diversity and disease. Here we characterized the rates and properties of rare genic CNVs (<0.5% ...

A new study proposes a solution to this problem in the form of a new method that can both evaluate and visually represent high numbers of SARS-CoV-2 genomes.