White paper: Detecting Challenging Variants in Constitutional Diseases
Challenging variants are difficult to identify but play an important role in building a complete picture of a patient. These types of variants include:
- Mid-sized deletions,
- Mobile Element Insertions – MEI (see below)
- Exome CNV’s
Download our white paper to know more about these types of variants and how to detect them.
An example of challenging variants: Mobile Element Insertions