Author

Miguel Cortés Guzmán

Universitat Pompeu FabraORCID 0000-0002-9461-2547Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Clàudia Serrano ColoméiD· 1 shared David CastellanoiD· 1 shared Donate WeghorniD· 1 shared Vladimir B. SeplyarskiyiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

4 top collaborators · 6 mutual co-author links

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1 shared paperGenomics

Clàudia Serrano ColoméORCID

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1 paper

Recent·Most cited

Transcription start sites experience a high influx of heritable variants fuelled by early development

Miguel Cortés Guzmán, David Castellano, Clàudia Serrano Colomé, Vladimir B. Seplyarskiy, Donate Weghorn

The paper identifies a hypermutation hotspot at transcription start sites in the human germline, linked to early embryogenesis and distinct from known mutagenic processes.

Nature Communications · Nov 26, 2025Peer-reviewedGenomics