Author

Kimberley M.B. Tirrell

University College London

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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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Helen C. O’NeilliD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

1 paper

Recent·Most cited

Comparing the diagnostic and clinical utility of WGS and WES with standard genetic testing (SGT) in children with suspected genetic diseases: A systematic review and meta-analysis

Kimberley M.B. Tirrell, Helen C. O’Neill

This study compares the diagnostic and clinical utility of whole-genome sequencing (WGS), whole-exome sequencing (WES), and standard genetic testing (SGT) in children with suspected genetic diseases, finding WGS and WES to be more effective than SGT.

medRxiv · Jul 17, 2023 · PreprintGenetic & Genomic Medicine