How to design the perfect panel?

Mar 06, 2018

How can a lab capture the current clinical and genetic expertise into an accurate diagnostics tool? As science moves forward, panels must be constantly improved and reviewed to ensure that the latest genetic knowledge is integrated. Eveliina Salminen, Clinical Interpretation team leader, and Samuel Myllykangas, Chief Technology Officer at Blueprint Genetics, discuss what to take into account when designing new panels to match clinical needs. "Many of the genes we have been currently adding are only very recently identified as clinically relevant. You really need to go to publications and investigate", says Eveliina Salminen.
Improving management and care of patients with hereditary cardiovascular disease

Aug 11, 2017

HIRO In this podcast Dr. Tero-Pekka Alastalo from Blueprint Genetics discusses with Dr. Krahn about the HIRO program and walk through the motivation, the history, the goals and the future of HIRO. It also involves discussion on using genetic testing in hereditary cardiovascular diseases. The discussion also addresses why the HIRO initiative is internationally unique and could be used as an operative model in other rare diseases and in other countries than Canada.
Clinical interpretation in genetic testing of inherited disorders

Aug 10, 2017

Accurate diagnosis of a patient with suspected inherited disorder requires detailed clinical information of the patient combined with family history and genetic testing results. Correct diagnosis confirmed with genetic testing forms the basis for selecting impactful and efficient treatments and surveillance for patients with inherited disorders and enables genetic counselling of the patient and the family.
Transparency in genetic diagnostics

Jun 15, 2017

There is a significant completion to drive down the price and TAT of genetic diagnostics. To survive in this competition, laboratories have to either rigorously innovate or then make compromises in quality and performace standards. In an untransparent diagnostic environment, health care professionals have a hard time to evaluate optimal and best testing for their patients.
Artificial intelligence in Genetic Testing of Inherited Disorders

Mar 23, 2017

Blueprint Genetics is applying Artificial Intelligence (AI) in clinical interpretation to automate manually laborious interpretation processes and empower geneticists and clinicians to interpret patients’ test data accurately and consistently. In this podcast, Massimiliano Gentile, Informatics Director, and Samuel Myllykangas, CTO, are discussing why AI is instrumental in advancing the interpretation of genetic testing data, how AI is applied for genetic testing of inherited disorders and what AI solutions Blueprint Genetics is offering for patients.
An introduction to Blueprint Genetics

Mar 22, 2017

Blueprint Genetics was founded five years ago as a Stanford University spin-off company. The aim from the beginning has been to bring genetic diagnostics into the daily routines of healthcare organizations. In this podcast Blueprint Genetics' co-founder Tero-Pekka Alastalo, MD, Ph.D together with Lauren Moissiy, MS, LGC, will discuss the origin of the company and what makes Blueprint Genetic a successful genetic testing provider.
Whole Exome Sequencing is a Powerful Tool to Diagnose Inherited Disorders with Complex Phenotypes

Mar 22, 2017

In this podcast, Mikko Muona, Genetic Informatics Scientist, and Samuel Myllykangas, CTO, are discussing 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 and what WES solutions Blueprint Genetics is offering for diagnostics of patients with inherited disorders.

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Last modified: 12.10.2018