Whole exome sequencing can present a goldilocks option between targeted gene panels and whole genome sequencing. Dive into some of the considerations for adopting whole exome sequencing in your institution.
analytics
Partner Spotlight: Dr Alessandra Terracciano
Read about our successful collaborations, Dr Terracciano’s favorite SOPHiA DDM™ Platform features, and what she sees in the future for SOPHiA GENETICS.
Application Note: The SOPHiA DDM™️ Platform for Neurological Disorders
Check out our step-by-step guide to using SOPHiA DDM™️ complemented by Alamut™️ Visual Plus to streamline the interpretation of clinical exome data for neurological disorders.
Diversity in Genomic Analysis: An example of how SOPHiA GENETICS has built more accurate health data analysis for diverse populations
Every person is unique. We can clearly see this within the more than one million genomic profiles from 70 different countries analyzed by our technology.
Benefits of doing genomic data analysis in house
Third party sequencing services can enable increased access to NGS testing, but if institutions do not receive access to the raw data it can limit the insights they can gain. Doing the data analysis in house can allow you to harness the power of genomic data to reveal relevant variants.
Four key challenges in myeloid malignancy detection
Next generation sequencing has greatly enhanced our capability to identify mutations associated with myeloid malignancies. However, accurate and timely detection of complex variants can be challenging.
Evolution of precision medicine
The field of precision medicine continues to evolve but remains steadfast in its goal to provide the right treatment to the right patients at the right time. This blog examines the evolution of precision medicine and how we can achieve its promise.
Separating the wheat from the chaff: Overcoming the challenges of exome sequencing
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.
Pan-cancer testing of microsatellite instability to optimize cancer management strategies
Microsatellite Instability: how do microsatellites mutations correlate with cancer?
Flexible alternative to traditional send out services
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.
Targeting homologous recombination deficiency (HRD) in cancer research
Learn about the impact of HRD on cancer development, how HRD status may predict sensitivity to certain treatments, and the different HRD testing methods available.
Continuing to crack the mitochondrial genetic code
What are mitochondria, why do they cause disease, and how can we analyze their genome?