Author

Anthony Kevin Webb

Manchester University NHS Foundation Trust

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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Genomics· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Christopher O’CallaghaniD· 2 shared Glenda M. BeamaniD· 2 shared Graeme Charles M. BlackiD· 2 shared Jamie M. EllingfordiD· 2 shared Robert Anthony HirstiD· 2 shared William G. NewmaniD· 2 shared Andrew R. WebsteriD· 1 shared Beatriz Gomes-SilvaiD· 1 shared

Activity by Year

2018-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenomics

Christopher O’CallaghanORCID

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2 papers

Recent·Most cited

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

Whole genome sequencing enables definitive diagnosis of Cystic Fibrosis and Primary Ciliary Dyskinesia

Jamie M. Ellingford, Glenda M. Beaman, Anthony Kevin Webb, Christopher O’Callaghan, Robert Anthony Hirst, Damian P. Smedley, Graeme Charles M. Black, William G. Newman

The paper uses whole genome sequencing to identify disease-causing variants in non-coding regions of genes, confirming diagnoses of Cystic Fibrosis and Primary Ciliary Dyskinesia.

bioRxiv · Oct 10, 2018 · PreprintGenomics