Author

Charles Shale

Hartwig Medical FoundationORCID 0000-0002-4226-0252Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Assay:whole-genome sequencing· 3 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Research Focus:variant calling· 2 Research Focus:differential expression· 1 Organism:human· 1 Research Focus:software / tool· 1

Frequent Co-Authors

Edwin P. J. G. CuppeniD· 3 shared Jonathan BaberiD· 3 shared Peter PriestleyiD· 3 shared Anthony T. PapenfussiD· 2 shared Daniel CameroniD· 2 shared Jose Espejo Valle-InclániD· 2 shared Nicolle J.M. BesselinkiD· 2 shared Arne van HoeckiD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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3 shared papersBioinformatics

Edwin P. J. G. CuppenORCID

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3 papers

Recent·Most cited

GenomicsNature GeneticsPeer-reviewedMay 1, 2023

Genetic immune escape landscape in primary and metastatic cancer

Francisco Martínez-Jiménez, Peter Priestley, Charles Shale…·Edwin P. J. G. Cuppen

The paper characterizes genetic immune escape (GIE) across primary and metastatic tumors, finding high prevalence and type-specific differences in immune evasion mechanisms.

105 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky

BioinformaticsbioRxivPreprintJul 9, 2020

GRIDSS2: comprehensive characterisation of somatic structural variation using single breakend variants and structural variant phasing

Daniel Cameron, Jonathan Baber, Charles Shale…·Anthony T. Papenfuss

GRIDSS2 identifies somatic structural variants by analyzing single breakends and phasing, achieving a 3.1% false negative rate in metastatic cancers and uncovering a novel duplication signature.

9 citations

whole-genome sequencingstatistical model

𝕏 PostBluesky

BioinformaticsbioRxivPreprintSep 25, 2019

GRIDSS, PURPLE, LINX: Unscrambling the tumor genome via integrated analysis of structural variation and copy number

Daniel Cameron, Jonathan Baber, Charles Shale…·Peter Priestley

A three-tool chain calls somatic structural variants, purity, ploidy and copy number from paired tumour/normal whole genomes, then clusters breakpoints into derivative chromosome structures and gene fusions.

60 citations

whole-genome sequencingstatistical model

𝕏 PostBluesky