Author

Christopher Smith

UK Dementia Research InstituteORCID 0009-0001-2987-8066Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:long-read sequencing· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Approach:experimental assay· 1 Organism:mouse· 1 Research Focus:software / tool· 1

Frequent Co-Authors

Alys N AstoniD· 2 shared Emma L. RandalliD· 2 shared Laura HeratyiD· 2 shared Ruban Rex Peter DurairajiD· 2 shared Vincent DioniD· 2 shared Aeverie E. R. HeuchaniD· 1 shared Alvaro MurilloiD· 1 shared Alysha S TayloriD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersNeuroscience

Alys N AstonORCID

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2 papers

Recent·Most cited

NeurosciencebioRxivPreprintOct 8, 2026

✦ In-depth digest

A novel analysis pipeline and experimental design for measuring expanded repeat instability

Christopher Smith, Ruban Rex Peter Durairaj, Emma L. Randall…·Vincent Dion

Delta plots from targeted long-read data separate repeat instability frequency, expansion bias and change size; a single-clone assay (SCIA) shows FAN1 knockout raises expansion frequency but shrinks expansions.

1 citation

humanmouse

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BioinformaticsbioRxivPreprintJul 26, 2026

Targeted sequencing of expanded tandem repeats: Identifying interruptions and errors

Aeverie E. R. Heuchan, Ruban Rex Peter Durairaj, Alys N Aston…·Vincent Dion

The paper develops CHARLIE, a method to identify interruptions and errors in expanded tandem repeats using targeted sequencing, validated on Huntington's disease and myotonic dystrophy type 1 samples.

DOI 10.64898/2026.07.23.739298

humanlong-read sequencing

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