VARIANTYX POSTS
National kidney month: Literature round up
This year we’re taking a survey of recent literature that’s influencing the way clinicians may approach genetic testing and treatment decisions for patients presenting with symptoms of kidney disorders now and in the future. Read on to learn with us …
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, on the surface, would seem to be a simple request: would we consider adding the MECR gene to our movement disorder, mitochondrial and neurology in-silico panels?
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: avoidance of amplification bias, detection of additional variant types and the ability to reanalyze the data at any time.
Whole genome clinical validation study
Take a deep dive into the data reported in our whole genome clinical validation study.
Disease predisposition risk: what to consider beyond cancer
Today, we’re taking a look at disease predisposition risk for conditions other than cancer with a focus on hemochromatosis and alpha-1 trypsin deficiency.