Insights Whole Exome Sequencing (WES) guide for patients and families Apr 12, 2018 Guide This guide gives patients and their families information about Whole Exome Sequencing (WES). WES is a genetic test that looks at the genetic information contained in all of our 20,000 genes (and their multiple exons) in one single test.
Insights 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. Read more
Insights Autosomal dominant inheritance – it’s all about the family Feb 28, 2019 Rare Disease Day In autosomal dominant inheritance an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. Individuals with autosomal dominant diseases have a 50% risk of passing the mutant gene and therefore the disorder on to their offspring. Read more
Insights SMN1/SMN2 and spinal muscular atrophy case report Feb 28, 2019 Case report This case report describes a 60-year-old male with spinal muscular atrophy type III diagnosed at the age of 27 years based on electromyoneurography (ENMG) and muscle biopsy findings. Read more
Insights Polycystic kidney disease (PKD1) case report Feb 28, 2019 Case report This case report describes a 25-year-old female diagnosed with polycystic kidney disease at 4 years of age, and a family history of ADPKD in multiple generations. Read more
Insights Clinical information can lead to finding a variant that might otherwise be missed Feb 28, 2019 Infographic This infographic gives concrete insights into how clinical information impacts successful genetic diagnostics. Read more
Insights 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. Read more
