Author

Richelle A. C. M. Olde Keizer

Radboud University NijmegenORCID 0000-0002-1535-4800Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome 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 Arthur van den Wijngaard· 1 shared Christian GilisseniD· 1 shared Debby M.E.I. HellebrekersiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adam Pullen

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 28, 2023

Genome sequencing as a generic diagnostic strategy for rare disease

Gaby Schobers, Ronny C. Derks, Amber den Ouden…·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.

3 citations

humanwhole-exome sequencing

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