Hospices Civils de Lyon in France share their insights from 5 years of experience using NGS for the molecular diagnosis of inherited cardiac diseases.
Article Spotlight: NGS for investigating cardiac disease
read more
variant calling
Application Note: Mitochondrial genome analysis with SOPHiA DDM™️ Whole-exome Sequencing
Learn how we addressed the unique challenges associated with genotyping mitochondrial DNA (mtDNA) to develop robust pipelines for mitochondrial genome analysis.
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.
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.
3 Ways Standardized Data Can Revolutionize Your Lab
To measure results from one individual against those of a control group and those with similar genomic profiles, data analysis must be unconditionally repeatable.