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

Click to filter author papers

Genetic & Genomic Medicine· 2 Genomics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenetic & Genomic Medicine

Graeme Charles M. BlackORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

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

Nadya S. Andhika, Susmito Biswas, Claire L. Hardcastle, David J. Green, Simon Ramsden, Ewan Birney, Graeme Charles M. Black, 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.

medRxiv · Dec 21, 2023 · PreprintGenetic & Genomic Medicine

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

Eva Lenassi, Ana Carolina de Carvalho, Anja Thormann, Liam Abrahams, Gavin Arno, Tracy A. Fletcher, Claire L. Hardcastle, Javier Lopez, Sarah E Hunt, Patrick Short, Panagiotis I. Sergouniotis, Michel Michaelides, Andrew R. Webster, Fiona M Cunningham, Simon Ramsden, , Jamie M. Ellingford

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

Journal of Medical Genetics · Jan 20, 2023Peer-reviewedGenetic & Genomic Medicine

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, Gavin Arno, Glenda M. Beaman, Beatriz Gomes-Silva, Christopher Campbell, Nicole C. Gossan, Claire L. Hardcastle, Anthony Kevin Webb, Christopher O’Callaghan, Robert Anthony Hirst, Simon Ramsden, Elizabeth A. Jones, Jill Clayton‐Smith, , 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.

bioRxiv · Sep 26, 2019 · PreprintGenomics