Talk: Optimizing Whole Exome Sequencing Assays for Clinical Diagnostic of Rare Diseases
Blueprint Genetics’ senior geneticist Jennifer Schleit (PhD, FACMG) gave a talk on Optimizing Whole Exome Sequencing Assays for Clinical Diagnostic of Rare Diseases at ACMG 2018. Find out why high-quality exome is so important. https://blueprintgenetics.com/wp-content/uploads/2018/04/ACMG-Talk-2018.mp4…
See moreGenetic Diagnostics and Targeted Therapies of Primary Immunodeficiency Diseases (PID)
This educational webinar is offered by Blueprint Genetics on genetic diagnostics and targeted therapies of Primary Immunodeficiency Diseases (PID) led by Dr. Jolan E. Walter. The current understanding of the genetic basis of PID and the present and emerging reasons for offering genetic diagnostics for these patients are discussed. A…
Read moreGenetic Diagnostics and Targeted Therapies of Primary Immunodeficiency Diseases (PID)
This educational webinar is provided by Blueprint Genetics on genetic diagnostics and targeted therapies of Primary Immunodeficiency Diseases (PID) led by Dr. Jolan E. Walter. The current understanding of the genetic basis of PID and the present and emerging reasons for offering genetic diagnostics for these patients are discussed. A…
See moreFeatured video
Genetic Diagnostics and Targeted Therapies of Primary Immunodeficiency Diseases (PID)
Published on April 23, 2018
This educational webinar is provided by Blueprint Genetics on genetic diagnostics and targeted therapies of Primary Immunodeficiency Diseases (PID) led by Dr. Jolan E. Walter. The current understanding of the genetic basis of PID and the present and emerging reasons for offering genetic diagnostics for these patients are discussed. A…
All videos
Talk: Optimizing Whole Exome Sequencing Assays for Clinical Diagnostic of Rare Diseases
Blueprint Genetics’ senior geneticist Jennifer Schleit (PhD, FACMG) gave a talk on Optimizing Whole Exome Sequencing Assays for Clinical Diagnostic of Rare Diseases at ACMG 2018. Find out why high-quality exome is so important. https://blueprintgenetics.com/wp-content/uploads/2018/04/ACMG-Talk-2018.mp4…
See more
Genetic Diagnostics and Targeted Therapies of Primary Immunodeficiency Diseases (PID)
This educational webinar is provided by Blueprint Genetics on genetic diagnostics and targeted therapies of Primary Immunodeficiency Diseases (PID) led by Dr. Jolan E. Walter. The current understanding of the genetic basis of PID and the present and emerging reasons for offering genetic diagnostics for these patients are discussed. A…
See more
Utilization of NGS in Genetic Diagnostics of Inherited Retinal Diseases with Panel Update
Blueprint Genetics will be providing an educational webinar on genetic diagnostics of inherited retinal diseases (IRD). Our current understanding of the genetic basis of IRD and the present and emerging reasons for offering genetic diagnostics for these patients will be discussed. A focus will be placed on the challenges involved…
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Featured episode
How to design the perfect panel?
Published on March 6, 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.
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All episodes
How to design the perfect panel?
Published on March 6, 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.
HIRO program: A new model for improving management and care of patients with hereditary cardiovascular disease
Published on August 11, 2017
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
Published on August 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.