In this podcast, Samuel Myllykangas, Ph.D and Tero-Pekka Alastalo, MD, Ph.D will discuss next generation sequencing used in clinical diagnostics and currently existing challenges in quality and performance. The Podcast also describes the Blueprint Genetics solutions and strategies to enforce transparency and improve the quality of genetic testing.
Key learning objectives:
- What are the challenges in today’s NGS diagnostics?
- How do laboratories set their quality standards?
- What are Blueprint Genetics solutions and strategies to enforce transparency and improve the quality of genetic testing?
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.
Samuel is the Executive Director of Strategy at Blueprint Genetics as well as a co-founder of the company. He is an expert in genome analysis technologies and has extensive experience in bioinformatics and cancer genomics research. Samuel received his PhD from the University of Helsinki and completed his postdoctoral research at Stanford University. At Stanford, he developed high-throughput sequencing technologies such as Oligonucleotide-Selective Sequencing (OS-Seq™). He is an adjunct professor in genetics at the University of Helsinki, an author of several high-impact publications, and an inventor and patent holder of DNA sequencing methods.