Author

Gemma Aiza

Institut d'Investigació Biomédica de Bellvitge

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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 Georgii A. BazykiniD· 1 shared José Luis SotoiD· 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

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, Ana Beatriz Sánchez‐Heras, Pilar Mur, José Luis Soto, Gemma Aiza, Fyodor A. Kondrashov, Alexey S. Kondrashov, Georgii A. Bazykin, 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.

bioRxiv · Jul 20, 2022 · PreprintGenetics