Author

Claire L. Hardcastle

St Mary's Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 3 Research Focus:variant effect prediction· 2 Assay:DNA methylation· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Graeme Charles M. BlackiD· 3 shared Simon Ramsden· 3 shared Andrew R. WebsteriD· 2 shared Gavin ArnoiD· 2 shared Jamie M. EllingfordiD· 2 shared Panagiotis I. SergouniotisiD· 2 shared Ana Carolina de CarvalhoiD· 1 shared Anja ThormanniD· 1 shared

Activity by Year

2019-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Graeme Charles M. BlackORCID

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3 papers

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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Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedJan 20, 2023

EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.

Eva Lenassi, Ana Carolina de Carvalho, Anja Thormann…·Jamie M. Ellingford

EyeG2P improves diagnostic genomic testing efficiency for inherited ophthalmic disorders by increasing precision while maintaining high sensitivity.

11 citations

humanwhole-exome sequencing

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GenomicsbioRxivPreprintSep 26, 2019

Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

Jamie M. Ellingford, Huw B. Thomas, Charlie F Rowlands…·Graeme Charles M. Black

This paper develops an in-silico and functional analysis framework to identify splicing mutations in rare genomic disorders, finding that SpliceAI prioritization improves diagnostic clarity and yield.

18 citations

humanwhole-exome sequencing

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