Comprehensive Genomic Association Data for Genetic Variant Interpretation: A Computational Approach

Presented By: Mark Kiel, MD, PhD

Speaker Biography: Dr. Mark Kiel is Co-Founder and Chief Science Officer at Genomenon, where he oversees the company's scientific direction and product development. After spending 15 years preparing for a life of academic research, Mark became convinced that revolutionary change in genomics was more likely to emerge out of industry. In 2014, he founded Genomenon - a life science IT company addressing the challenge of connecting doctors with evidence in the literature to help diagnose patients with genetic diseases and cancer.

Webinar: Comprehensive Genomic Association Data for Genetic Variant Interpretation: A Computational Approach

Webinar Abstract: Design and interpretation of genome sequencing assays and data in both clinical diagnostics and research labs is complicated by an inability to identify information from the medical literature and related databases quickly, comprehensively and reproducibly. This challenge is due in part to the complexity and heterogeneity of nomenclatures used by authors to describe diseases, genes, and genetic variants including single nucleotide changes, indels, and structural alterations like fusion genes and copy number variants (CNVs).

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