Author

John F. Peden

Illumina (United Kingdom)

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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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adam Pullen· 1 shared Aimee D. C. PaulusseniD· 1 shared Alejandra Gutierrez· 1 shared Alexander P.A. StegmanniD· 1 shared Amber den OudeniD· 1 shared Anthony V. MoormaniD· 1 shared Arthur van den Wijngaard· 1 shared Christian GilisseniD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adam Pullen

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2 papers

Recent·Most cited

A dedicated caller for DUX4 rearrangements from whole-genome sequencing data

Pascal Grobecker, Stefano Berri, John F. Peden, Kai-Jie Chow, Claire Fielding, Ivana Armogida, Helen Northen, David J. McBride, Peter J. Campbell, Jennifer Becq, Sarra L. Ryan, David Bentley, Christine J. Harrison, Anthony V. Moorman, Mark T. Ross, Martina Mijušković

The paper introduces a software tool to detect DUX4 rearrangements from whole-genome sequencing data, showing it can identify known and previously unidentified cases in a cohort of paediatric ALL patients.

bioRxiv · May 23, 2024 · PreprintBioinformatics

Genome sequencing as a generic diagnostic strategy for rare disease

Gaby Schobers, Ronny C. Derks, Amber den Ouden, Hilde L. Swinkels, Jeroen van Reeuwijk, Ermanno Bosgoed, Dorien Lugtenberg, Su Ming Sun, Jordi Corominas, Marjan M. Weiss, Marinus J. Blok, Richelle A. C. M. Olde Keizer, Tom G. J. Hofste, Debby M.E.I. Hellebrekers, Nicole de Leeuw, , Lisenka E.L.M. Vissers

This study evaluates genome sequencing as a primary diagnostic tool for rare diseases, finding it can detect 95% of clinically relevant variants with a 0.3% false negative rate.

medRxiv · Sep 28, 2023 · PreprintGenetic & Genomic Medicine