P660: MANE (Matched Annotation from NCBI and EMBL-EBI) version 1.5: An update with new non-coding genes and MANE Plus Clinical transcripts

Genetics in Medicine Open 2026 Open access

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Authors: Shashikant Pujar, Jane Loveland, Alex Astashyn, Ruth Bennett, Andrew E. Berry, Claire Davidson, Reham Fatima, Tamara Goldfarb, José Fernando Verdín González, Diana E. Haddad, Matthew Hardy, Toby Hunt
+13 more John Jackson, Vinita Joardar, Michael Kay, Vamsi Kodali, Kelly M. McGarvey, Jonathan M. Mudge, Françoise Thibaud‐Nissen, Anjana R. Vatsan, Craig Wallin, David Webb, Adam Frankish, Mallory Freeberg, Terence Murphy
DOI: 10.1016/j.gimo.2026.104150
Cited by: 0

Abstract

Accurate reporting of clinical variants is essential for precise diagnosis and treatment of diseases. MANE Select, a representative transcript from the Matched Annotation from NCBI and EMBL-EBI (MANE) collaboration has served as a universal standard to report variants and exchange information about them since 2018. MANE Select is comprised of a pair of identical transcripts, one each from RefSeq and Ensembl annotations whose identifiers can be used synonymously. An additional standard, the MANE Plus Clinical, is provided for genes where the MANE Select alone is not sufficient to report known clinical variants.

Fields of Study & Subjects

Genomics and Rare Diseases Genomics and Phylogenetic Studies Biomedical Text Mining and Ontologies

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104150–104150
Publication date
1 January 2026
Language
EN