Author

Manuel Comabella

Universitat Autònoma de BarcelonaORCID 0000-0002-2373-6657Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Xavier MontalbániD· 2 shared A.L. Bergander· 1 shared Adam SantanielloiD· 1 shared Alexander Vogt· 1 shared An GorisiD· 1 shared Anastasia IllarionovaiD· 1 shared Ane Aldekoa· 1 shared Anna Quiroga-VarelaiD· 1 shared

Activity by Year

2018-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 16 mutual co-author links

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2 shared papersGenetics

Xavier MontalbánORCID

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3 papers

Recent·Most cited

NeurosciencebioRxivPreprintJul 29, 2026

Unscheduled DNA synthesis reveals a DNA repair hotspot and biomarker of somatic instability at the expanded-CAG repeat tract in the huntingtin gene

Judith Praena Fernandez, Annette Gärtner, Jesús Pérez‐Pérez…·Paolo Beuzer

The paper develops URSA, a method to quantify DNA repair activity at the CAG repeat tract in HD, showing it correlates with somatic instability and can be measured rapidly in blood cells.

DOI 10.64898/2026.07.29.741355

humanDNA methylation

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GeneticsbioRxivPreprintMar 20, 2026

A dual-function variant on chromosome 17 regulates circRNA expression and splicing in multiple sclerosis

Saioa GS Iñiguez, Leire Iparraguirre, Eduardo Andrés-León…·Maider Muñoz‐Culla

The paper identifies genetic variants that regulate circRNA expression and splicing in multiple sclerosis, highlighting a dual-function variant on chromosome 17.

1 citation

humanbulk RNA-seq

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GeneticsCellPeer-reviewedOct 18, 2018

Low frequency and rare coding variation contributes to multiple sclerosis risk

Mitja Mitrovič, Nikolaos A. Patsopoulos, Ashley Harris Beecham…·Hakon H. Hakonarson

The paper identifies low-frequency coding variants contributing to multiple sclerosis risk using a large case-control study.

173 citationstop 1%

humanGWAS summary statistics

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