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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.

Bioinformatics Software Developer – a blend of tech and science

April 15, 2021

Careers Sohrab Saraei is convinced that anything can be done “if only you want it enough and work hard for it.” Sohrab joined Blueprint Genetics in 2019 and constantly works hard to keep up with the ever-moving waters of bioinformatics.

Challenges in confirming a diagnosis in skeletal dysplasia

March 15, 2021

Interview Given the considerable phenotypic overlap among the over 450 skeletal dysplasias and growth disorders, establishing the precise diagnosis can be a challenge. We looked at over 500 cases from 3 commonly ordered panels in this disease group and recognized key elements to consider that contribute to establishing a molecular diagnosis.

Genetic Counselor Awareness Day: Educator, advocate, counselor

Saara Salonoja · October 28, 2020

Interview Genetic counselors have the expertise to translate complex information to patients and families, assisting them in making the best choice for their specific needs. We asked two genetic counselors how they found their profession, and how they see it evolving.

VUS, the unwanted result? Collaboration between clinicians and laboratories helps lay the foundation for future reclassification

Eija Seppälä · June 26, 2020

Blog What can you do to help advance reclassification? In her blog, Senior Geneticist Eija Seppälä lists what to consider when determining how likely it is that a VUS will be reclassified.

Understanding a variant of uncertain significance – take a close look at the interpretation

Eija Seppälä · May 29, 2020

Blog As a molecular geneticist, my goal is to minimize the number of VUSs reported as primary findings and ensure that we clearly define those in the report that are the most suspicious and have the greatest potential to be clinically relevant, writes Senior Geneticist Eija Seppälä in her blog.

What to consider when choosing sponsored testing for your patient with an inherited retinal disease

December 04, 2019

My Retina Tracker What to consider when choosing sponsored testing for your patient with an inherited retinal disease? This article aims to provide insights about why different quality aspects matter, including the importance of covering difficult-to-sequence regions, as well as having explicit information regarding patient data privacy.

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