Author

Christine S. Hughes

Queen Mary University of London

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Bioinformatics· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:machine learning (classical)· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

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Andrea SottorivaiD· 1 shared Ann‐Marie BakeriD· 1 shared Eszter LakatosiD· 1 shared Heather E. GrantiD· 1 shared Hemant Mahendrakumar KocheriD· 1 shared Ibrahim Al BakiriD· 1 shared Jacob HousehamiD· 1 shared Luis ZapataiD· 1 shared

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Andrea SottorivaORCID

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1 paper

Recent·Most cited

BioinformaticsbioRxivPreprintOct 3, 2024

Long deletion signatures in repetitive genomic regions track somatic evolution and enable sensitive detection of microsatellite instability

Qingli Guo, Jacob Househam, Eszter Lakatos…·Trevor A. Graham

This paper identifies long deletion signatures in repetitive regions as markers of microsatellite instability and develops a classifier to detect MSI in low-quality sequencing data.

2 citations

humanwhole-genome sequencing

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