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SUMMARY:Part 2: AI-Powered Hereditary Disease Diagnostics: Closing the Gap in Clinical Exome Completeness
DESCRIPTION:Clinical exome sequencing (CES) is increasingly being adopted by small and mid-sized laboratories to diagnose genetic diseases\, aid treatment decisions\, and provide prognostic information. However\, the exponential increase in genetic data generated from exome and genome panels poses significant workflow challenges. The ability to prioritize potentially pathogenic variants from large datasets and identify the few candidate variants becomes more difficult. This issue is further amplified in cases where labs must use deep phenotyping of patients and compare that to reference genotype-phenotype knowledge associated with each candidate variant. To overcome these challenges\, labs are beginning to implement Artificial Intelligence (AI) in their variant analysis\, interpretation and reporting workflows. \nJoin us for our 2023 Clinical Hereditary Disease Diagnostics Summit\, a free-to-attend\, two-part event exploring the opportunities and limitations of AI in hereditary disease diagnostics. Designed to help clinical diagnostic labs learn how to safely apply AI to exome and genome sequencing workflows\, the content-rich event will feature invited lectures from lab directors and clinical geneticists\, thought-provoking discussions on the future of hereditary disease diagnostics\, as well as educational presentations on the latest databases and AI-powered software for germline secondary and tertiary analysis. \nPart II: Roundtable discussion with genomics experts – November 9\, 2023 \nA panel discussion featuring experts in the field of clinical genomics that will explore the challenges and opportunities in the future of inherited disease diagnostic testing. \nFor the list of speakers and session information\, visit our event page here.
URL:https://staging.digitalinsights.supremeclients.com/webinars-and-events/part-2-ai-powered-hereditary-disease-diagnostics-closing-the-gap-in-clinical-exome-completeness/
LOCATION:Virtual Global Event (Times shown in EST)
CATEGORIES:Clinical,Training
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DTSTART;TZID=America/New_York:20231109T130000
DTEND;TZID=America/New_York:20231109T143000
DTSTAMP:20260410T165252
CREATED:20231012T163428Z
LAST-MODIFIED:20241024T182943Z
UID:10000692-1699534800-1699540200@staging.digitalinsights.supremeclients.com
SUMMARY:Isolate typing\, strain identification and antimicrobial resistance analyses using QIAGEN CLC Genomics Workbench
DESCRIPTION:QIAGEN CLC Genomics Workbench provides tools and workflows for a broad range of bioinformatics applications\, including microbiome analysis\, isolate characterization through SNP and K-mer trees using NGS data\, and antimicrobial resistance characterization. CLC Genomics Workbench is widely used for analyses of bacterial\, viral and eukaryotic (fungal) genomes and metagenomes.  We’ll cover these topics in the training:  I. Overview of different tools within MGM application and research areas supported II. Focused review of isolate typing and characterization a. Importing data b. Utilization of metadata c. Downloading and managing references i. Database of Isolates/ Resistances/ MLST d. Walk through of Type a Known Species workflow i. Review details for each Isolate e. Creating SNP profiles to specific reference f. Generate a SNP tree for isolate comparison g. Export tabular and high-quality graphical outputs in wide range of file formats
URL:https://staging.digitalinsights.supremeclients.com/webinars-and-events/isolate-typing-strain-identification-and-antimicrobial-resistance-analyses-using-qiagen-clc-genomics-workbench/
LOCATION:Virtual - Americas - EST\, United States
CATEGORIES:Discovery,Training
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