Author

Victoria Svinti

Edinburgh Cancer ResearchORCID 0000-0001-9926-0416Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Malcolm G. DunlopiD· 2 shared Anja ThormanniD· 1 shared Archie I CampbelliD· 1 shared Caroline Fiona WrightiD· 1 shared David MooreiD· 1 shared David R FitzPatrickiD· 1 shared Farhat V N DiniD· 1 shared Fiona M CunninghamiD· 1 shared

Activity by Year

2019-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Malcolm G. DunlopORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineBMC MedicinePeer-reviewedAug 2, 2021

Oral Vitamin D supplementation induces transcriptomic changes in rectal mucosa that are consistent with anti-tumour effects.

Peter G Vaughan-Shaw, Graeme R. Grimes, James Peter Blackmur…·Malcolm G. Dunlop

This study shows oral vitamin D supplementation changes rectal mucosa gene expression patterns linked to anti-tumor effects, with blood biomarkers HIPK2 and PPP1CC identifying responders.

10 citations

humanbulk RNA-seq

𝕏 PostBluesky

GeneticsNature CommunicationsPeer-reviewedMay 30, 2019

VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants

Anja Thormann, Mihail R. Halachev, William M. McLaren…·David R FitzPatrick

VEP-G2P filters genomic variants for diagnostic purposes, showing higher sensitivity but lower precision for de novo and inherited variants, with significant background noise in controls.

150 citationstop 2%

humanwhole-exome sequencing

𝕏 PostBluesky