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the SHaRe Investigators

University of Exeter

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Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Research Focus:gene regulatory network inference· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Caroline Fiona WrightiD· 1 shared James S. WareiD· 1 shared Kaitlin E. SamochaiD· 1 shared Nicholas LiiD· 1 shared Nicola WhiffiniD· 1 shared Pantazis I. TheotokisiD· 1 shared Xiaolei ZhangiD· 1 shared

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2022-2022 · peak 1/yr

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7 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Caroline Fiona WrightORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 16, 2022

Genetic constraint at single amino acid resolution improves missense variant prioritisation and gene discovery

Xiaolei Zhang, Pantazis I. Theotokis, Nicholas Li…·James S. Ware

This paper introduces HMC, a high-resolution genetic constraint score for missense variants, improving variant prioritization and gene discovery for developmental disorders.

8 citations

humanGWAS summary statistics

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