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The exome encompasses all protein coding regions, covers 2% of the human genome and contains majority of the disease-causing variants in inherited disorders. Whole exome sequencing (WES) represents a powerful tool to systematically detect the widest set of pathogenic variants in patients’ DNA.

Blueprint Genetics provides high-quality WES and comprehensive clinical interpretation to solve those cases where gene panels have turned out negative and when selection of correct panel is complicated due to patients’ heterogeneous phenotypes. In this podcast, Mikko Muona, Genetic Informatics Scientist, and Samuel Myllykangas, are discussing how whole exome sequencing is used in diagnosing inherited disorders with complex phenotypes.

Learning objectives:

  • Why WES is instrumental tool for determining genetic underpinnings of inherited disorders
  • How WES can be applied to solve clinical cases with complex genetic backgrounds
  • What WES solutions Blueprint Genetics is offering for diagnostics of patients with inherited disorders.



Mikko Muona

Mikko Muona, PhD, is Genetic Informatics Scientist at BpG. He is leading the development of whole-exome sequencing data analysis and interpretation. He joined BpG after obtaining PhD Degree from University of Helsinki, Finland in 2016. He has several years of experience in utilizing whole-exome sequencing in novel disease gene identification and diagnostics for rare disorders.

Samuel Myllykangas

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.

Last modified: 09.30.2020

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