How can we improve diagnostic yield for patients with complex phenotypes? During our Satellite Session at ESHG 2021, Executive Medical Director Tero-Pekka Alastalo, MD, PhD, discussed the benefits of combining high-quality mtDNA analysis with routine panel-based diagnostics.
During the talk, Dr Alastalo presented Blueprint Genetics approach to improving diagnostic yield with:
- High-resolution copy number variant detection
- Inclusion of noncoding variants
- Resolving clinically important difficult-to-sequence regions
- High-quality mitochondrial DNA analysis
Watch a recording of our other ESHG 2021 presentation on solving diagnostic challenges in difficult-to-sequence regions with a special focus on hearing loss, led by Senior Manager of Genomic Services Kim Gall, MSc, CGC.
Tero-Pekka is the Executive Director of Medical, and also a co-founder at Blueprint Genetics. He is based in San Francisco and holds various responsibilities in the North American operations of the company. Tero-Pekka has an MD-PhD degree and is specialized in pediatrics and pediatric cardiology. He has a PhD in molecular and cellular biology as well. During his 3-year postdoctoral training at Stanford University School of Medicine, he focused on the molecular genetic mechanisms of cardiovascular disease.