Miguel Maquedano

ORCID: 0009-0001-2460-4429
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About
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Research Areas
  • RNA and protein synthesis mechanisms
  • Genomics and Phylogenetic Studies
  • RNA modifications and cancer
  • Machine Learning in Bioinformatics

Spanish National Cancer Research Centre
2024

GENCODE produces comprehensive reference gene annotation for human and mouse. Entering its twentieth year, the project remains highly active as new technologies methodologies allow us to catalog genome at ever-increasing granularity. In particular, long-read transcriptome sequencing enables identify large numbers of missing transcripts substantially improve existing models, our long non-coding RNA catalogs have undergone a dramatic expansion reconfiguration result. Meanwhile, we are...

10.1093/nar/gkae1078 article EN cc-by Nucleic Acids Research 2024-11-20

The human genome has been the subject of intense scrutiny by experimental and manual curation projects for more than two decades. Novel coding genes have proposed from large-scale RNASeq, ribosome profiling proteomics experiments. Here we carry out an in-depth analysis entire database. We analysed proteins, peptides spectra housed in build PeptideAtlas database to identify regions that are not yet annotated GENCODE reference gene set. find support hundreds missing alternative protein...

10.1101/2024.11.14.623419 preprint EN cc-by-nc bioRxiv (Cold Spring Harbor Laboratory) 2024-11-15

Abstract In 2018 we analysed the three main repositories for human proteome, Ensembl/GENCODE, RefSeq and UniProtKB. They disagreed on coding status of one every eight annotated genes. The analysis inspired bilateral collaborations between annotation groups. Here have repeated our with updated versions reference gene sets. Superficially, little appears to changed. Although there are slightly fewer genes predicted as overall, groups still disagree 2,606 However, a comparison without...

10.1101/2024.12.05.626965 preprint EN cc-by bioRxiv (Cold Spring Harbor Laboratory) 2024-12-09
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