Author

Geoffrey J. Maher

University of OxfordORCID 0000-0001-7135-4824Unclaimed 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:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Andrew O.M. WilkieiD· 2 shared Anne GorielyiD· 2 shared Eleni GiannoulatouiD· 2 shared Nils KoellingiD· 2 shared Abhijit DixitiD· 1 shared Ajith KumariD· 1 shared Alexander T. DengiD· 1 shared Alice GardhamiD· 1 shared

Activity by Year

2018-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Andrew O.M. WilkieORCID

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintJul 26, 2022

The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush…·Anne Goriely

The paper presents a method to assess recurrence risk of de novo mutations in families using deep-sequencing and haplotyping, finding that 59% of DNMs had reduced risk below 0.1%.

2 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsGenome ResearchPeer-reviewedDec 1, 2018

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

Geoffrey J. Maher, H. Ralph, Zhihao Ding…·Anne Goriely

The paper identifies 61 novel mutations in the aged human testes, most affecting the RAS-MAPK pathway, showing evidence of selfish selection in the male germline.

85 citations

humanwhole-genome sequencing

𝕏 PostBluesky