Author

Oľga Østrup

University of Copenhagen

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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Approach:benchmark study· 1 Research Focus:benchmarking· 1 Organism:human· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Arman SimonyaniD· 1 shared Christina Bligaard PederseniD· 1 shared Christina Westmose YdeiD· 1 shared Filipe Garrett VieiraiD· 1 shared Finn Cilius NielseniD· 1 shared Frederik Otzen BaggeriD· 1 shared Gül Sude Demircan· 1 shared Lars Rønn OlseniD· 1 shared

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1 paper

Recent·Most cited

BioinformaticsCancersPeer-reviewedDec 14, 2021

A comparison of tools for copy-number variation detection in germline whole exome and whole genome sequencing data

Miglė Gabrielaitė, Mathias Husted Torp, Malthe Sebro Rasmussen…·Frederik Otzen Bagger

The paper benchmarks CNV detection tools on WGS and WES data using clinical standards and reference samples, finding that combining multiple tools improves recall but precision remains a challenge.

111 citationstop 1%

humanwhole-exome sequencing

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