Enhancing variant interpretation: Obtaining answers from a vast universe of data
Pinpointing pathogenic mutations from large, complex datasets can be difficult, time-consuming, and somewhat overwhelming.
So, how can you streamline your genomic analysis, to make it quicker, easier, and more efficient?
In this webinar you will learn how Alamut™ Visual Plus enables clinical researchers to:
➡️ Resolve splice-site variants using splicing scores and exonic splicing enhancer binding site predictors in a visual interface.
➡️ Conduct familial variant analysis (FVA) for prioritization of germline variants, by excluding those that do not follow Mendelian inheritance patterns.
➡️ Utilize trusted databases, predictors, publications and guidelines, such as the ACMG criteria, for effective genomics interpretation.
➡️ Enhance interpretation through Alamut™ Visual Plus which offers comprehensive annotations and visualization of breakpoints and coverage across different file types in a full genome browser.
➡️ Better understand the significance of a guideline-driven approach to variant nomenclature for consistent analysis and reporting.
Additionally, Rolph Pfundt, a Clinical Molecular Geneticist at Radboud University Medical Centre in the Netherlands, will share insights into his variant interpretation workflow. He will also highlight how Alamut™ Visual Plus enables the identification of complex variants with greater ease and precision.
