SOPHiA GENETICS was excited to be a part of the American Society of Human Genetics 2021 annual meeting, held virtually from October 18th to 22nd. If you missed us at ASHG 2021, we’ve made our talks available on-demand.
On-Demand Co-Lab Talk – available now!
Overcoming technology-related pitfalls to ensure high performance of NGS assays
Presenter: Slawomir Kubik, PhD, SOPHiA GENETICS
Over the past decade great advances have been made in sequencing technologies. However, many challenges still need to be addressed for optimal assay design, data analysis and interpretation. We present an overview of the key aspects considered during the development of SOPHiA GENETICS’ solutions. In particular, we demonstrate:
- Design of efficient data analytical workflows considering application type (germline or somatic), enrichment technology (amplicon versus hybridization capture) or sequencing instrument (variable noise).
- Translation of specific technical and biological aspects of the targeted regions, such as mitochondrial DNA or immunoglobulin genes, into optimal panel design.
- Tackling challenging sequences – homopolymers, homologous regions, tandem repeats – to simplify data interpretation
- By demonstrating how to account for, or overcome, the obstacles encountered at the level of technology and data analysis, we highlight that deliberate design choices ensure the most reliable results.
Lightning Talk – available now!
SOPHiA Clinical Exome Solution for rare disorder assessment: from identification to interpretation
Presenter: Georgios Stamoulis, PhD, SOPHiA GENETICS
This talk focuses on ways SOPHiA Clinical Exome Solution V3 (CES V3) and Alamut Visual Plus™ support in-depth, reliable investigation of genomic variants associated with rare and inherited disorders. The CES V3 end-to-end workflow enables the identification and exploration of SNVs, Indels, CNVs, and non-coding variants in a unique experiment, while it offers full coverage of the mitochondrial genome. CES V3 leverages the SOPHiA DDM™ platform for analysis, prioritization, and reporting of disorder-causing genomic variants, making complicated and labor-intensive research efforts simpler. Further, accelerating rare disorder variant interpretation and annotation in a consolidated and consistent approach is supported by Alamut Visual Plus™ – full-genome browser employing numerous curated genomic and literature databases, guidelines, missense, and splicing predictors.