Workshop: Interpreting Genetic Variation in Clinical Research using Ensembl: Exploring Ensembl/GENCODE Annotation, MANE Transcripts, and the Ensembl Variant Effect Predictor (VEP)

Description

This workshop will take you through the annotation process for Ensembl/GENCODE and MANE, allowing you to experience the rationale, challenges and conflicts involved in annotation and transcript selection.

For more information, visit our Online Program Planner.

Learning Objectives:

1. Examine the Ensembl/GENCODE annotation process and its application to the interpretation of genetic variation in clinical research.
2. Define the methodology supporting the MANE project and its utility for the consistent reporting of clinical variants.
3. Identify the challenges and conflicts involved in transcript selection and evaluate these in your research and/or clinical context.
4. Apply the Ensembl Variant Effect Predictor (VEP) to map genetic variants, determine their likely effects and filter to find candidate variants.