Author

Cleo van Diemen

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

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alain Knopperts· 1 shared Birgit Sikkema-Raddatz· 1 shared Cisca WijmengaiD· 1 shared Eddy N de Boer· 1 shared K. Joeri van der VeldeiD· 1 shared Kristin Abbott· 1 shared Lude FrankeiD· 1 shared Morris Swertz· 1 shared

Activity by Year

2016-2016 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperBioinformatics

Alain Knopperts

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1 paper

Recent·Most cited

GAVIN - Gene-Aware Variant INterpretation for medical sequencing

K. Joeri van der Velde, Eddy N de Boer, Cleo van Diemen, Birgit Sikkema-Raddatz, Kristin Abbott, Alain Knopperts, Lude Franke, Rolf Sijmons, Tom J de Koning, Cisca Wijmenga, Richard Sinke, Morris Swertz

GAVIN classifies variants with high sensitivity and specificity using gene-specific calibrations, outperforming 12 other tools in a clinical benchmark.

bioRxiv · Aug 30, 2016Bioinformatics