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

C.E. Credits: P.A.C.E. CE Florida CE
Speaker
  • Co-Founder and Chief Science Officer, Genomenon
    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.

    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). Mastermind is a unique bioinformatic platform that employs a high-throughput computational technique known as Genomics Language Processing (GLP) to index more than 7.5M full-text articles and 2.5M supplemental datasets associated with such publications. It has automatically identified, disambiguated, and annotated more than 6.0M distinct genetic variants, and identified >50K disease-gene associations. In this webinar, Dr. Kiel will demonstrate how Genomenon’s approach to Big Data and Artificial Intelligence using GLP can connect single-nucleotide variants, in/dels, CNVs, and gene fusions with diseases, phenotypes, and drugs to allow the variant scientist to understand genomic associations across the entirety of the empirical evidence from the medical literature. Taken together, these results will demonstrate the suitability and superiority of GLP for evidence collection and clinical diagnostic variant interpretation for multiple genetic variant types, and highlight the potential benefit in informing both clinical practice and biomedical research.

    Learning Objectives:

    1. How GLP can improve the sensitivity and specificity of genetic variant searches for single nucleotide and indel variants compared with conventional approaches

    2. How GLP can improve the efficiency and accuracy of evidence search for structural variants like CNVs and fusion genes

    3. How the evidence resulting from GLP can be used to increase the speed and diagnostic utility of genetic variant interpretation


    Show Resources
    You May Also Like
    SEP 10, 2020 9:00 AM PDT
    C.E. CREDITS
    SEP 10, 2020 9:00 AM PDT
    Date: September 10, 2020 Time: 9:00am (PDT), 12:00pm (EDT) Osmolality testing is relevant throughout the entire bioprocessing workflow. As customers look to refine mAb and gene therapy workf...
    NOV 10, 2020 7:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    NOV 10, 2020 7:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    DATE: November 10, 2020 TIME: 7:00am PDT, 10:00am EDT Automation can provide tremendous benefits such as increased pipetting precision and accuracy, productivity, and throughput. Numerous wo...
    NOV 16, 2020 8:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    C.E. CREDITS
    NOV 16, 2020 8:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    Date: November 16, 2020 Time: 8:00am (PST), 11:00am (EST) CRISPR screening has become the prime discovery tool in modern biomedical research and drug discovery. At the same time, most screen...
    NOV 18, 2020 8:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    C.E. CREDITS
    NOV 18, 2020 8:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    DATE: November 18, 2020 TIME: 08:00am PDT We develop and implement technologies to solve some of the major bottlenecks in biomedical research. In particular, we establish new imaging approac...
    SEP 03, 2020 9:00 AM PDT
    C.E. CREDITS
    SEP 03, 2020 9:00 AM PDT
    DATE: September 3, 2020 TIME: 09:00am PT, 12:00pm ET xxx Learning Objectives: xxx Webinars will be available for unlimited on-demand viewing after live event. LabRoots is approved as a provi...
    MAY 08, 2020 10:00 AM PDT
    C.E. CREDITS
    MAY 08, 2020 10:00 AM PDT
    DATE: May 8, 2020 TIME: 10:00am PT, 11:00am MT, 1:00pm ET The application of next generation sequencing to interrogate immune repertoires and methods in which these highly complex dataset...
    Loading Comments...
    Show Resources