Why are CNVs so important to consider when choosing genetic testing for your patient? During her presentation at ESHG 2019 in Gothenburg, Associate Laboratory Director Eveliina Salminen (MD, PhD), presented evidence of how high resolution CNV detection increases the diagnostic yield.
“CNVs are an important disease mechanism that should be evaluated in all patients with a suspected inherited disorder”, Salminen says.
What it takes
Salminen emphasizes that CNV detection is possible from next generation sequencing data, but it requires:
- Good quality sample
- Uniform sequencing coverage
- Bioinformatics tools
- Manual review for called CNV events to identify likely false-positive findings
- Confirmation with other method (qPCR / sanger sequencing etc) for the smallest events
“Uniform, high sequencing coverage across exome target is needed for the robust CNV calling”, she concludes.
Watch a recording of our other ESHG 2019 presentation on resolving difficult-to-sequence regions, led by Johanna Sistonen (PhD).