Author

Carl Fratter

Oxford University Hospitals NHS TrustORCID 0000-0001-7125-5391Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:variant calling· 2 Assay:long-read sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Christopher FearniD· 1 shared Claudia R. OlivaiD· 1 shared Corinne E. GrigueriD· 1 shared Dennis Y.Q. WangiD· 1 shared Elizabeth Wood· 1 shared Joanna PoultoniD· 1 shared Mark DunningiD· 1 shared Matthew D. ParkeriD· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperBioinformatics

Christopher FearnORCID

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2 papers

Recent·Most cited

BioinformaticsBioinformaticsPeer-reviewedSep 14, 2026

NanoDel: Identification of large-scale mitochondrial DNA deletions using long-read sequencing

Christopher Fearn, Joanna Poulton, Carl Fratter…·Rhiannon E. McGeehan

NanoDel detects large-scale mitochondrial DNA deletions using long-read sequencing, showing improved sensitivity and accuracy over existing methods.

DOI 10.1093/bioinformatics/btag684

humanlong-read sequencing

𝕏 PostBluesky

GenomicsbioRxivPreprintApr 4, 2019

Clinical long-read sequencing of the human mitochondrial genome for mitochondrial disease diagnostics

Elizabeth Wood, Matthew D. Parker, Mark Dunning…·Carl Fratter

This study evaluates the use of Oxford Nanopore MinION long-read sequencing for detecting mtDNA deletions in mitochondrial disease diagnostics, finding it effective for large deletions but less reliable for single nucleotide variants.

5 citations

humanwhole-genome sequencing

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