Did you miss our ASHG symposium? Don’t fret! Read our recap of how renowned genomic experts saved time, reduced costs, and improved the yield of their hereditary cancer and rare disease workflows using SOPHiA DDM™ combined with Alamut™ Visual Plus.
inherited diseases
Raising Awareness of Familial Hypercholesterolemia (FH)
Studies show that as few as 10% of people living with familial hypercholesterolemia (FH) could be aware of their diagnosis. Could genetic testing expedite early diagnosis and timely treatment?
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.
Food for thought from ESHG 2022: The power of genomic testing for advancing pediatric healthcare
Read our summary of new research studies presented at the European Society of Human Genetics (ESHG) Annual Conference 2022 about how next-generation sequencing is advancing pediatric healthcare.
Rare Chromosome Disorder Awareness Week 2022
Test your knowledge in our quick-fire quiz for Rare Chromosome Disorder Awareness Week 2022!
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.
Food for thought from ACMG 2022: Unleashing the potential of exome sequencing
Read our summary of top-rated research in the field of exome sequencing at the American College
of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting 2022.
Continuing to crack the mitochondrial genetic code
What are mitochondria, why do they cause disease, and how can we analyze their genome?
US Cancer Moonshot Plan to Cut Cancer Death Rate in Half
The President acknowledged that the US still has much further to come in advancing data-driven initiatives and that many Americans sadly do not realize the struggle of seeking answers during the cancer diagnostic journey until it’s too late.
Food for thought from FoG 2022: The future of genomics for rare and inherited disorders
We attended the world’s largest genomics and biodata event last week, and it did not disappoint. Read our summary of three thought-provoking sessions on rare and inherited disorders at the Festival of Genomics & Biodata 2022.
Staying a step ahead of breast cancer with data-driven medicine
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.