QIAGEN’s Ingenuity Variant Analysis (IVA) combines analytical tools and integrated content to help you rapidly identify and prioritize variants by drilling down to a small, targeted subset of compelling variants based on published biological evidence and your knowledge of disease biology. IVA allows you to interrogate variants from multiple biological perspectives, explore different biological hypotheses, and identify the most promising variants for follow-up. This workshop will focus on how to use IVA to upload datasets, efficiently use different filters within variant analysis to identify causal variants, and export data. The class will also review recent IVA updates.
The Human Gene Mutation Database (HGMD) database provides quick access to known published gene lesions responsible for human inherited disease. This session will explore how to query genes and mutations in HGMD and how to view the curated content.
This class introduces mutation types and how to identify the mutations from DNA sequences. Additionally, it describes resources to access information about the impact of variants on proteins associated with drug response guidelines. This class will help participants determine how to find solutions in the selection of variants, especially in clinical research.
Copy Number Variation (CNV) is a type of structural variation in which sections of the genome are duplicated or deleted. Associated with being causal mutations for disease phenotypes, it is important in clinical and research settings to identify CNV events in samples or datasets. Golden Helix’s VarSeq-CNV (VS-CNV) is a calling algorithm that uses one testing paradigm to provide a true simplification of a clinical workflow. VarSeq incorporates the ability to accurately call and annotate CNVs and evaluate germline and somatic mutations according to the Association for Molecular Pathology (AMP) guidelines. Golden Helix CancerKB is an AMP workflow feature that streamlines the analysis time and report generation.
Attendees will learn the following: setting up the VS-CNV caller using BAM files from whole exome data; filtering down to high quality; understanding high confidence CNV events; annotating CNVs using publicly curated catalogs and databases; adding clinically relevant CNVs to the VSClinical AMP workflow; and utilizing Golden Helix CancerKB to obtain expert-curated interpretations. This class will demonstrate updated software features, provide insights into best practice workflows, and show participants how to implement the software into a pipeline solution.
Video is increasingly being used to share scientific information, whether as part of an online conference, educational course, or promotional tool. This class will share tips and tricks for preparing media, capturing high quality images and sound, and ensuring an overall professional appearance. Specific guidance for remote presentations, video abstracts, and audiovisual software and equipment will also be provided.Training Category: Technology Classes
Evaluating variants according to the American College of Medical Genetics and Genomics (ACMG) guidelines can be an extensive process as it requires an in-depth understanding of all available criteria for any variant. VSClinical is an automated solution for the complex ACMG guidelines process. In this class, the instructor will discuss how VSClinical follows the true-to-form ACMG classification rules. Attendees will discover the value of automating the ACMG guidelines to make variant classification consistent and simplify the interpretation process for those less familiar with ACMG criteria.
Go beyond the standard web search tools and learn to search more efficiently; access alternative sources; search for scholarly, clinical, and scientific information; find images, podcasts, and videos; and discover news, people, and information from social media. Attendees will learn strategies and methods for searching more efficiently and discover new sources to support faster and more productive web searching.Training Category: Databases and Searching Classes
This class will provide an overview of the various reporting guidelines and standards established for conducting systematic reviews and how to use them in the writing of your systematic review manuscript. Participants will also gain valuable information about how to structure their manuscript and select appropriate journals for submission.