NCBI and EBI have been hard at work on our joint MANE collaboration, providing a set of representative transcripts for human protein-coding genes that are identically annotated in the NCBI RefSeq and Ensembl/GENCODE annotation sets and exactly match the GRCh38 reference assembly. We’re pleased to announce MANE v0.92, now covering 16,865 genes or ~88% of known human protein-coding genes.
In particular, we’ve focused on clinically relevant genes and MANE Select now includes 99% of genes with high gene-disease validity. This release also includes 43 extra transcripts labeled “MANE Plus Clinical” that we’ve chosen to aid in clinical reporting, for example, when there are additional pathogenic variants not covered in the MANE Select transcript. While it’s critical to consider other alternatively-spliced transcripts for variant interpretation or functional analyses, the MANE Select and MANE Plus Clinical transcripts provide a common foundation for clinical reporting, and other analyses that benefit from using just one well-supported transcript or protein per gene.
MANE Select is now shown in the genome aggregation database gnomAD v3, and is displayed and used as the preferred transcript for variant reporting in ClinVar. You can download annotation and summary files for the latest MANE release from our FTP site, and the MANE Select transcripts from v0.90 are tagged in the latest NCBI RefSeq annotation and transcripts. Tracks are also available in all the major genome browsers including NCBI’s Genome Data Viewer, UCSC, and Ensembl, and this latest version can be loaded to any compatible browser using the MANE track hub.
Check out our documentation if you’re interested in additional details about the MANE project or want to take a deep dive into MANE Select methodology. You can contact us at MANE-help@ncbi.nlm.nih.gov. We’re always happy to answer questions and interested in feedback on how to make this dataset better meet your needs.