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4 common myths in genetic testing

June 22, 2020

Interview Has the incredible growth in genetics left us with some misconceptions about testing? Laboratory Director Jennifer Schleit listed some of the common myths in genetic testing.

Mitochondrial genome analysis increases the diagnostic yield of genetic testing

September 23, 2022

Mitochondrial DNA (mtDNA) disorders are recognized as one of the most common causes of inherited metabolic disorders. mtDNA disorders can come with a range of symptoms such as fatigue, exercise intolerance, hearing loss, seizures, strokes, heart failure, diabetes, and kidney failure. There are approximately 120 mitochondrial disorders described affecting 1 in 5000 individuals worldwide.

Skeletal Dysplasia Infographic: Clinical Overview and Testing

August 20, 2021

Infographic Skeletal dysplasias include over 450 different types of genetic conditions affecting the skeleton, often with considerable phenotypic overlap. Take a look at our infographic for a clinical overview of these conditions, genetic testing considerations, and to learn more about research in this field.

Infographic: A Genotype-First Approach to WES

July 19, 2021

Infographic This infographic provides an overview of the genotype-first approach to WES analysis, what it means and why it matters.

Fábio Arrojo: A geneticist “helps people find answers”

May 06, 2021

Careers Fábio Arrojo is like a detective at times. Just that he doesn’t investigate crimes or questions suspects, but “digs deep down into genes.” Analyzing genetic sequences and their meaning is his job in a nutshell, trying to find an explanation for the patient’s symptoms.

Cloud engineering in genetics – “Built for flexibility”

April 16, 2021

Careers "The systems we are creating are built for simplicity and flexibility, not to be fancy and complex". Eemi Haukkala works as a cloud engineer at Blueprint Genetics. Read his story on what he enjoys about working in the field of clinical genetic testing.

Coding on top of the universe: A front-end software developer in genetics

April 15, 2021

Careers Coding for genetics applications means problem-solving, progress-tracking, and especially quality assurance, through various levels of testing during each stage of the development process.

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