Whole exome sequencing has the potential to accelerate the diagnosis of rare diseases, but without the right tools, achieving comprehensive coverage and sifting through tens of thousands of variants is a challenge.
next generation sequencing
Microsatellite Instability: how do microsatellites mutations correlate with cancer?
How Protean BioDiagnostics utilizes SOPHiA GENETICS for more comprehensive genomic analysis and research
Larger panels may cast wider nets, but optimization with patented algorithms through our universal platform gives more actionable insights without sacrificing data quality.
Increased access to genomic testing can help fulfill the promise of making precision medicine accessible to all, but the upfront investment required for institutions to start their own sequencing labs remains a barrier. This challenge can be overcome by using sequencing service.
What are mitochondria, why do they cause disease, and how can we analyze their genome?
About half of all breast cancer patients develop the disease outside of the period of ages 50-69 and could greatly benefit from earlier detection. Today, we know that age alone is not enough to accurately estimate breast cancer risk.
Think of it like trying to find a treasure buried on a beach. It would be a lot easier to use a metal detector than to pick through each grain of sand.
The medical research community has been buried in data since well before the global COVID-19 pandemic. How they’re now managing the extreme additional influx of SARS-CoV-2 data determines the outcomes of a lab’s overall research capabilities.
To measure results from one individual against those of a control group and those with similar genomic profiles, data analysis must be unconditionally repeatable.
The process of tuning into a specific “clean” frequency is not unique to music on the radio alone. Medical research must be reproducible without the static.