Author

Sirisha Hesketh

University of OxfordORCID 0000-0001-7768-1068Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Carl FratteriD· 1 shared Dennis Y.Q. WangiD· 1 shared Elizabeth Wood· 1 shared Mark DunningiD· 1 shared Matthew D. ParkeriD· 1 shared Ryan Charles PinkiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

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6 top collaborators · 15 mutual co-author links

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1 shared paperGenomics

Carl FratterORCID

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1 paper

Recent·Most cited

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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