Author

Barbara Dewaele

Universitair Ziekenhuis LeuvenORCID 0000-0002-1183-5228Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Assay:long-read sequencing· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Annelies DheedeneiD· 1 shared Bart LoeysiD· 1 shared Bert Louis CallewaertiD· 1 shared Björn MenteniD· 1 shared Griet De ClercqiD· 1 shared Joris Robert VermeeschiD· 1 shared Lies Vantomme· 1 shared Mojca StražišariD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Annelies DheedeneORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineScientific ReportsPeer-reviewedNov 24, 2024

Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping

Griet De Clercq, Lies Vantomme, Barbara Dewaele…·Björn Menten

This study uses long-read sequencing and optical genome mapping to fully characterize unresolved structural variants, achieving single-basepair resolution and improving diagnostic yield.

20 citationstop 3%

humanlong-read sequencing

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