News

​Client Services Associate position at Blueprint Genetics Inc, San Francisco, CA

Published on October 28, 2016

Blueprint Genetics is a genetic diagnostics company that focuses on human rare diseases. This position is based out of San Francisco. We are a team of 50+ professionals running a clinical laboratory providing genetic diagnostics for professional use. Our current diagnostic portfolio includes over 400 tests that cover all inherited…

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We are looking for a highly motivated and skilled Product/Support Specialist for a full-time position, starting as soon as possible!

Published on October 24, 2016

Blueprint Genetics is a clinical diagnostics and genetic knowledge company based in Helsinki, Finland. We are a team of 50+ professionals running a clinical laboratory providing genetic diagnostics for professional use. Our current diagnostic portfolio includes over 400 tests that cover all inherited disorders. We work with over 240 clinics…

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Blueprint Genetics is looking for a highly motivated and skilled Laboratory Technician for a full-time position, starting as soon as possible

Published on October 18, 2016

Blueprint Genetics is a clinical diagnostics and genetic knowledge company based in Helsinki, Finland. We are a team of 50+ professionals running a clinical laboratory providing genetic diagnostics for professional use. Our current diagnostic portfolio includes over 400 tests that cover all inherited disorders. We work with over 240 clinics…

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Blueprint Genetics is excited to introduce new and updated cardiology panels

Published on September 28, 2016

To date, thousands of cardiology patients around the world have been analyzed with our proprietary OS-Seq technology-based panels and by our team of experts in the field. High annual patient volumes in rare hereditary cardiac diseases have made us one of the leading laboratories in the world. We have used…

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Supporting all 2nd year students of Canadian Genetic Counselling programs by covering the registration fee for attending the NSGC

Published on August 30, 2016

Blueprint Genetics is dedicated to advancing genetic research and diagnostics and bringing the #GeneticKnowledge into mainstream healthcare. Therefore, we are happy to support the education of genetic counselling, genetics and genomics by covering the registration fee of $250 USD to every second year student enrolled in Canadian genetic…

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A new innovative CNV analysis for genetic diagnostics

Published on May 12, 2016

Whole Genome Del/Dup (CNV) Introducing a new innovative first line genetic diagnostic product for patients with clinical suspicion of large chromosomal abnormalities and microdeletion/microduplication syndromes. Blueprint Genetics’ utilizes Whole Genome Sequencing combined with a dedicated analysis pipeline to evaluate deletions and duplications (copy number variations, CNVs) in the genome. Our technology has…

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How we classify genetic variants when interpreting patients results

Published on March 5, 2016

In genetic diagnostics, variant classification forms the basis for clinical judgment. Despite the international guidelines and principles, there is still significant inter-laboratory variation in classification of genetic variants. A wrong classification can misguide the clinical judgment in patient care including severe consequences in risk stratification among family members. Blueprint Genetics is dedicated to…

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From sample to diagnosis – genetic testing with Blueprint Genetics

Published on March 5, 2016

Monogenic diseases are caused by a single defective gene that occurs in all cells throughout the body. Geneticists have identified approximately 7,500 inherited diseases in humans that affect millions of people worldwide. Although the global prevalence is relatively rare, affecting roughly 5 in 100 people from birth, these diseases place…

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Introducing 210 new genetic tests, covering over 2,000 genes.

Published on March 2, 2016

Providing actionable genetic knowledge for all medical specialties Join us at ACMG, where we are excited to introduce 210 new tests bringing our world-class testing and interpretation to all medical specialties. Learn about our revolutionary clinical interpretation process, powered by IBM Watson, which makes it possible…

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Blueprint Genetics is one of the most promising growth companies in Finland

Published on February 5, 2016

Blueprint Genetics has been chosen as one of the top 20 most promising growth companies in 2016 by Talouselämä. Talouselämä, a Finnish weekly financial and business magazine, has chosen the most promising start-up companies in Finland for the fifth year in a row. The jury judged the growth and internationalization possibilities…

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Blueprint Genetics becomes the first laboratory to receive ISO 15189 accreditation for a NGS pipeline from sample arrival to clinical interpretation

Published on February 2, 2016

Blueprint Genetics is now an ISO 15189 standard accredited No. T292 laboratory. Accreditation is a procedure to recognize an organization’s competence to carry out specific tasks based on internationally agreed criteria. The quality management system at Blueprint Genetics complies with the international ISO 15189 standard, which specifies the quality requirements for medical…

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Relevance of Truncating Titin Mutations in Dilated Cardiomyopathy

Published on January 28, 2016

As a continuation to Blueprint Genetics recent collaborative studies on genetics of dilated cardiomyopathy (DCM) (Eur Heart J 2015 and PlosOne 2015), we performed meta-analysis of truncating titin variants in DCM. Others and we have previously estimated TTN truncating variants (TTNtv) – nonsense, frameshift and consensus splice site, to be responsible for…

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Prevalence of Titin Truncating Variants in General Population

Published on January 11, 2016

As a continuation to Blueprint Genetics recent collaborative study on genetics of dilated cardiomyopathy (Eur Heart J 2015), we were enthusiastic to further evaluate variation of titin gene in large reference populations. This is an important step towards a better understanding of the titin truncations in cardiomyopathies. Earlier studies have…

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2015 was great for genetic diagnostics but 2016 will be even better

Published on December 18, 2015

As the holiday season is approaching, we want to thank all of our customers, partners and collaborators for the great year. During 2015 we expanded into new territories and had the privilege to learn from and work with physicians and researchers from all over the world. We are very pleased…

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Media contact

Juulia Simonen

Communication manager

+358 50 305 9018

juulia.simonen@blueprintgenetics.com

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