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Ensembl gene annotation for clinical genomics
Overview
Ensembl provides the GENCODE gene annotation that is used by major sequencing projects, such as gnomAD, GTEx and ENCODE. In this webinar you will learn about how the GENCODE genes are annotated and how you can best use them to report the locations of clinically relevant variants. We will also cover our latest project, collaborating with RefSeq to create the MANE (Matched Annotation from NCBI and EBI) transcript set, to ensure consistent variant reporting across databases.
Who is this course for?
This webinar is individuals working on clinical genomics who wish to learn more about the annotating and reporting variants. No prior knowledge of bioinformatics is required, but an undergraduate level knowledge of genetic variationwould be useful.
Resource details
| Contributed by: | Pathology Portal |
| Authored by: |
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| Licence: | Creative commons: Attribution-NonCommercial 4.0 International More information on licences |
| First contributed: | 23 December 2022 |
| Audience access level: | Full user |
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