How to solve challenging cases? Part I


During this webinar, our molecular geneticists Jennifer Schleit (PhD, Senior geneticist) and Lucia Guidugli (PhD, Director of molecular genetics), will present some of their most challenging cases, will walk you through each step of the analysis process, and describe how they arrived at a specific molecular diagnosis.

Talk: Improved Diagnostic Yield in Rare Hereditary Disorders - Meeting Clinical Needs Using Customized Whole Exome Sequencing Solutions


Clinical Liaison Kim Gall (MSc, CGC, LGC) gave a talk on Improved Diagnostic Yield in Rare Hereditary Disorders and Meeting Clinical Needs Using Customized Whole Exome Sequencing Solutions at ACMG 2019. Find out about whole exome sequencing (WES) platforms and the customizations we have made in an effort to increase diagnostic yield.

6 things you might not know about Whole Exome Sequencing


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 · 21.02.2019

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.

VUS – the most maligned result in genetic testing


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? Senior geneticist Jennifer Schleit describes why variants are classified as a VUS and what can be done to advance reclassification.