White paper

Challenging variants in constitutional diseases

detecting challenging variants in constitutional diseases SeqOne white paper miniature

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.

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