Read about our successful collaborations, Dr Terracciano’s favorite SOPHiA DDM™ Platform features, and what she sees in the future for SOPHiA GENETICS.
Partner Spotlight: Dr Alessandra Terracciano
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Science Hub
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.
Seven reasons to choose SOPHiA DDM™ Dx RNAtarget Oncology Solution for gene fusion detection
Cancer management outcomes can strongly benefit from robust and accurate detection of gene fusions. SOPHiA GENETICS developed the SOPHiA DDM™ Dx RNAtarget Oncology Solution to make this possible.
We list 7 reasons to consider SOPHiA DDM™ Dx RNAtarget Oncology Solution for your assays.
Food for thought from ASCO 2022: breaking boundaries in breast cancer research
Last week we attended the 2022 American Society of Clinical Oncology (ASCO) meeting, gathering the world’s leading researchers in oncology. Read our summary of four groundbreaking presentations on breast cancer research.
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!
Tech Talk: Achieve sensitive and precise CNV calling with SOPHiA DDM™ Platform
Learn about the SOPHiA DDM™ Platform’s CNV detection algorithm from our Senior Algorithm Researcher, Bita Khalili.
Expect more from your RNA analyses with the new SOPHiA DDM™ RNAtarget Technology
Q&A with the Clinical Application Product Manager, Mikhail Pertziger, PhD
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.
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.
Rare Disease Day 2022
Test your rare disease knowledge in our quiz for Rare Disease Day 2022!
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.