Article

Ensembl gene annotation for clinical genomics

2019-12-16

Abstract excerpt

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 se...

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Literature Corpus work: 40a0f81d-535f-5208-8f60-c245b674075f
DOI: 10.6019/tol.ensembl_clingen-w.2019.00001.1

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