CNVs and structural variants - Somatic CNA detection

5 important questions on CNVs and structural variants - Somatic CNA detection

Roles of CNAs in cancer

  • Oncogene amplification
  • Tumor suppressor deletion

Difference between WGS and WES when detecting reads?

Spacing is different. WES is cut nicely but WGS not.

Why transform and normalize reads?

Read counts vary
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Why does WES has a GC bias?

WES involves a capture/hybridization step and GC has more binding strength

A con of read depth SV detection in WGS?

No positional infomation

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