Author

Sara Galavotti

University of BirminghamORCID 0000-0002-1240-0963Unclaimed 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· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Claire PallesiD· 2 shared Ian P.M. TomlinsoniD· 2 shared Lynn M. MartiniD· 2 shared Mathijs Arnoud SandersiD· 2 shared Aleksandar J DimovskiiD· 1 shared Andrea SottorivaiD· 1 shared Andreas J GruberiD· 1 shared Andrés Dacal Rivas· 1 shared

Activity by Year

2021-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 40 mutual co-author links

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2 shared papersGenomics

Claire PallesORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

GenomicsNature GeneticsPeer-reviewedSep 30, 2021

Elevated somatic mutation burdens in normal human cells due to defective DNA polymerases

Philip S. Robinson, Tim H. H. Coorens, Claire Palles…·Michael R. Stratton

The paper shows that germline mutations in POLE or POLD1 lead to elevated mutation burdens in normal human cells and tissues, but do not cause premature aging or other phenotypic features beyond early-onset cancer.

173 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintApr 27, 2021

Germline loss-of-function variants in the base-excision repair gene MBD4 cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia

Claire Palles, Edward Chew, Judith E. Grolleman…·Richarda M. de Voer

3 citations

humanDNA methylation

𝕏 PostBluesky