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Lost in Translation: The Pitfalls of Ensembl Gene Annotations Between Human Genome Assemblies and Their Impact on Diagnostics

2020-12-21

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold>The GRCh37 human genome assembly is still widely used in genomics despite the fact an updated human genome assembly (GRCh38) has been available for many years. A particular issue with relevant ramifications for clinical genetics currently is the case of the GRCh37 Ensembl gene annotations which has been archived, and thus not updated, since 2013. These Ensembl GR...

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Literature Corpus work: 371b7c38-bf49-51b8-8b88-5c9a7bebc4f8
DOI: 10.21203/rs.3.rs-131927/v1

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