Author

Luca Lovrečić

University of LjubljanaORCID 0000-0003-4119-9530Unclaimed 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· 3 Approach:experimental assay· 2 Research Focus:differential expression· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aleš MaveriD· 2 shared Anja KovandaiD· 2 shared Borut PeterliniD· 2 shared Helena JakličiD· 2 shared Aleksander AndjeliciD· 1 shared Alenka HodžićiD· 1 shared Alexander J.M. DingemansiD· 1 shared Angelika Rieß· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Aleš MaverORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineScientific ReportsPeer-reviewedOct 3, 2026

The landscape of structural variants in male infertility identified by optical genome mapping

Anja Kovanda, Alenka Hodžić, Urška Kotnik…·Borut Peterlin

This study identifies structural variants in male infertility using optical genome mapping, finding rare variants in 25% of patients that may contribute to infertility.

DOI 10.1038/s41598-026-70834-6

humanwhole-genome sequencing

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Genetic & Genomic MedicineGenesPeer-reviewedNov 30, 2023

Evaluation of optical genome mapping in clinical genetic testing of facioscapulohumeral muscular dystrophy

Anja Kovanda, Luca Lovrečić, Goražd Rudolf…·Borut Peterlin

This study evaluates optical genome mapping (OGM) as an alternative to Southern blot for diagnosing facioscapulohumeral muscular dystrophy (FSHD), showing concordance and identifying additional genetic variants in some cases.

6 citations

humanexperimental assay

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMar 25, 2022

Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome

Jet van der Spek, Joery den Hoed, Lot Snijders Blok…·Tjitske Kleefstra

The paper shows inherited CHD3 variants cause Snijders Blok-Campeau syndrome with variable expressivity, overlapping with de novo variants' phenotypes, and suggests reduced penetrance is not due to expression compensation.

33 citationstop 5%

humanwhole-exome sequencing

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