Author

Neil Vargesson

University of AberdeenORCID 0000-0001-8027-114XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Adrianna M. BielowkaiD· 1 shared Andrew David MumfordiD· 1 shared Awatif Abdulmogith· 1 shared Claire L. ShovliniD· 1 shared Dan MurphyiD· 1 shared Dilip Patel· 1 shared Dongyang LiiD· 1 shared María E Bernabeu-Herrero· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adrianna M. BielowkaORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 10, 2023

Functional filter for whole genome sequence data identifies stress impact, non-coding, alternate polyadenylation site variants >5kb from coding DNA

Sihao Xiao, Zhentian Kai, Dan Murphy…·Claire L. Shovlin

GROFFFY filters whole genome sequence data to identify non-coding and polyadenylation site variants, improving detection of disease-causing variants in unsolved cases.

2 citations

humanwhole-genome sequencing

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