Author

Göknur Haliloğlu

National Institutes of HealthORCID 0000-0003-1813-275XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1

Frequent Co-Authors

Anne O’Donnell‐LuriaiD· 2 shared Carsten G. BönnemanniD· 2 shared Christina Anne Austin-TseiD· 2 shared Emily O’HeiriD· 2 shared Heidi L. RehmiD· 2 shared Ikeoluwa Osei‐OwusuiD· 2 shared Lynn S. PaisiD· 2 shared Melanie O’LearyiD· 2 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anne O’Donnell‐LuriaORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewedApr 15, 2025

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

Sarah L. Stenton, Kristen M. Laricchia, Nicole J. Lake…·Anne O’Donnell‐Luria

The paper identifies mitochondrial DNA variants in undiagnosed rare disease families using exome and genome sequencing data, leading to diagnoses in 0.4% of cases.

3 citations

humanwhole-exome sequencing

𝕏 PostBluesky

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

𝕏 PostBluesky