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Home Pathology Portal Genetics and Genomics Omics techniques and their application to genomic medicine Overview of methodologies including Sanger sequencing, qFPCR, MLPA, aCGH, FISH.
Overview of methodologies including Sanger sequencing, qFPCR, MLPA, aCGH, FISH.
Pathology Portal

Ensembl gene annotation for clinical genomics

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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.

DOI: 10.6019/TOL.Ensembl_ClinGen-w.2019.00001.1

  • Emily Perry
    EMBL-EBI
  • Joannella Morales
    EMBL-EBI

Resource details

Contributed by: Pathology Portal
Authored by: Emily Perry, The European Molecular Biology Laboratory-European Bioinformatics Institute's (EMBL-EBI).
Joannella Morales, The European Molecular Biology Laboratory-European Bioinformatics Institute's (EMBL-EBI).
Mahesh Prahladan, Pathology Portal
Licence: © All rights reserved More information on licences
First contributed: 09 May 2024
Audience access level: General user

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