Author

Stojan Perić

University of BelgradeORCID 0000-0002-2979-556XUnclaimed 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 Research Focus:differential expression· 1 Assay:DNA methylation· 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

Ana TöpfiD· 1 shared Anna ŁusakowskaiD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Atchayaram NaliniiD· 1 shared Audrey L. DaughertyiD· 1 shared Ben WeisburdiD· 1 shared Bjarne UddiD· 1 shared Carsten G. BönnemanniD· 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

Ana TöpfORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedDec 9, 2024

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets

Ben Weisburd, Rakshya Sharma, Villem Pata…·Anne O’Donnell‐Luria

The paper develops and validates SMA Finder, a tool to diagnose spinal muscular atrophy in genome, exome, and panel sequencing data, identifying known and novel cases with high accuracy.

7 citations

humanwhole-exome sequencing

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