SV and CNV basics
To understand and use the pipelines and apps in the svx-mdi-tools suite, you must first understand structural variation (SV) of the genome, and something about the attributes and limitations of the techniques used to detect that variation.
We published a comprehensive overview of the biology of structural genome variation and the evolution of SV ascertainment technologies, many of which directly correspond to specific SVX pipelines.
Here, we present a more practical overview geared toward helping you use the SVX tools.