Author

José Luis Soto

Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat ValencianaORCID 0009-0006-3137-4840Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alexey S. KondrashoviD· 1 shared Ana Beatriz Sánchez‐HerasiD· 1 shared Fyodor A. KondrashoviD· 1 shared Gemma Aiza· 1 shared Georgii A. BazykiniD· 1 shared Laura ValleiD· 1 shared Maria A. AndrianovaiD· 1 shared Mariona TerradasiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alexey S. KondrashovORCID

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintJul 20, 2022

Extended family with an inherited pathogenic variant in polymerase delta provides strong evidence for recessive effect of proofreading deficiency in human cells

Maria A. Andrianova, Vladimir B. Seplyarskiy, Mariona Terradas…·Laura Valle

The paper investigates the effect of an inherited POLD1 variant on mutation rates in germline and somatic cells, showing a recessive effect on proofreading deficiency in cancer.

6 citations

humanDNA methylation

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