Author

Susmito Biswas

Manchester Royal Eye HospitalORCID 0000-0003-1548-0572Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Assay:DNA methylation· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Claire L. Hardcastle· 1 shared David J. GreeniD· 1 shared Ewan BirneyiD· 1 shared Graeme Charles M. BlackiD· 1 shared Nadya S. AndhikaiD· 1 shared Panagiotis I. SergouniotisiD· 1 shared Simon Ramsden· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

7 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Claire L. Hardcastle

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintDec 21, 2023

Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene

Nadya S. Andhika, Susmito Biswas, Claire L. Hardcastle…·Panagiotis I. Sergouniotis

The paper evaluates and optimizes computational tools for predicting the pathogenicity of PAX6 missense variants, finding that AlphaMissense performs best with an optimized threshold.

1 citation

humanDNA methylation

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