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Copy Number Variant (CNV) Detection at Blueprint Genetics

Sep 16, 2019

CNVs are becoming increasingly recognized as an important cause of many genetic diseases.

Genetic Testing for Individuals with Kidney Disease: Updates and Clinical Utility

Aug 28, 2019

Identifying, or confirming, a genetic diagnosis can help guide medical management, improve patient outcomes and enable the identification of at-risk family members who may benefit from surveillance. During this webinar, Dr. Friedhelm Hildebrandt will review the most recent advances in genetic testing and diagnosing inherited kidney disease.

How to solve challenging cases? Part II

Jul 19, 2019

During this webinar, Blueprint Genetics’ Clinical R&D lead, Dr. Johanna Sistonen, will present some of the team’s most challenging cases and describe how their above and beyond efforts led to the identification of the molecular diagnoses for the patients.

Behind the scenes: What it actually takes to make a genetic test

Jun 26, 2019

In this webinar Blueprint Genetics’ co-founder and Chief Strategy Officer Samuel Myllykangas (PhD) will explain what all goes into creating the genetic tests you order, and what clinicians should look for when assessing the quality of a genetic test.

What if it’s a variant of uncertain significance (VUS)?

Mar 28, 2019

Variants of uncertain significance (VUS) are an aspect of genetic testing that is often seen as a challenge. How do I explain this result to my patient? Does this result change how I manage a patient?

6 things you might not know about Whole Exome Sequencing

Mar 05, 2019

Interview Selecting the appropriate panel for a patient can be difficult. “Not every patient fits into a neat phenotypic box or meets diagnostic criteria. WES removes the difficulty of trying to find the right panel for your patient as all protein-coding genes are covered in one single test", says senior geneticist Jennifer Schleit. There are many important factors to consider when choosing a whole exome test for your patient.

Finding your role and purpose within clinical genetics

Jussi Paananen · Feb 21, 2019

Blog Developers, software architects, data scientists – the rarest of commodities in the current hot employment market. As an employer, how do you differentiate yourself from all the other interesting opportunities out there? To me, the answer is quite simple, writes Chief Technology Officer Jussi Paananen in his blog.

Improved Mapping Quality and Coverage in Highly Homologous PKD1 Gene Enable High Diagnostic Yield in ADPKD

Apr 04, 2019

Research We evaluated the diagnostic yield and performance of our in-house tailored Polycystic Kidney Disease and Cystic Kidney Disease Panels.

Case Report: The Power of NGS-based CNV Analysis within an Exome

Apr 04, 2019

Case report This case report describes a young adult who presented as an infant with feeding difficulties, growth retardation, recurrent infections, dysmorphic features and multiple congenital anomalies including bilateral coloboma and bilateral choanal atresia.

The diagnostic odyssey of ultra-rare diseases: a patient’s perspective

Juulia Simonen · Jan 29, 2019

Interview In 1998, Satu Salonen retired from her position as the head of an IT company and began her diagnostic odyssey. It took over five years to find a treatment that helps her cope with her own rare disease. She is now the president of the Finnish Association for Ultra Rare Diseases.

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