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,” said Salminen.
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 the exome target is needed for the robust CNV calling,” she concluded.
Watch a recording of our other ESHG 2019 presentation on resolving difficult-to-sequence regions, led by Johanna Sistonen, PhD.
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Eveliina Salminen led the clinical interpretation team at Blueprint Genetics until 2019. She obtained her PhD on genetics of multiple epiphyseal dysplasia and osteoarthritis in 2005, followed by postdoctoral studies concentrated in genetics of multiple sclerosis, population genetics, and Mendelian disease-gene mapping at the Broad Institute, MA, USA and National Public Health Institute, Helsinki, Finland. Eveliina has also worked as a geneticist in the Finnish Genome Center in Helsinki with genome-wide and custom SNP chip projects doing project planning, management, genotyping, and data analysis. She has Specialist training in clinical genetics: both clinical (Dept of Clinical Genetics and Prenatal diagnostic unit, Helsinki University Central Hospital) and laboratory experience (HUSLAB, Laboratory of genetics).