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October 30, 2020
FXN: What you need to know for Friedreich’s ataxia patients
It’s well known that FXN variants cause Friedreich’s ataxia – a progressive form of ataxia that usually affects individuals before 25 years...
September 17, 2020
Is WGS-based testing relevant for patients with suspected mitochondrial disease?
In short, yes! But let’s take a step back and start with what mitochondrial disease is. We have to start...
August 10, 2020
Get to know the genes behind epilepsy
We’ve previously looked at examples of the spectrum of genetic seizure disorders: ranging from syndromes where seizures are the only symptoms...
March 18, 2020
National kidney month: Literature round up
March is National Kidney Month, and Thursday March 12, 2020 is World Kidney Day. Both strive to raise awareness about kidney...
February 26, 2020
Flexible in-silico panel expansion: A MEPAN case study
A couple of months ago we received an email from Danny Miller, founder of the MEPAN Foundation. He wrote with what,...
February 18, 2020
3 strengths of WGS-based in-silico panel analysis
We’ve taken the approach of combining whole genome sequencing (WGS) with in-silico panel analysis for three key reasons: First, PCR-free...