Author

Haydeé Artaza

University of BergenORCID 0000-0002-1585-5488Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Anette S. B. WolffiD· 2 shared Ellen Christine RøyrvikiD· 2 shared Ksenia Lavrichenko· 2 shared Marc VaudeliD· 2 shared Stefan JohanssoniD· 2 shared Bente Berg JohanssoniD· 1 shared Divya Sri Priyanka Tallapragada· 1 shared Eirik BratlandiD· 1 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

Anette S. B. WolffORCID

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2 papers

Recent·Most cited

Contribution of Rare Large High-Penetrance CNVs to Pediatric and MODY Diabetes in Norway

Haydeé Artaza, Divya Sri Priyanka Tallapragada, Janne Molnes, Ksenia Lavrichenko, Anette S. B. Wolff, Ellen Christine Røyrvik, Torild Skrivarhaug, Marc Vaudel, Eirik Bratland, Bente Berg Johansson, Pål R. Njølstad, Stefan Johansson

The paper identifies rare, large, high-penetrance CNVs in Norwegian pediatric diabetes and MODY patients, finding 0.63% and 0.09% of cases attributable to pathogenic deletions, with some undetected by standard methods.

medRxiv · Feb 25, 2025 · PreprintGenetic & Genomic Medicine

Rare Copy Number Variant analysis in case-control studies using SNP Array Data: a scalable and automated data analysis pipeline

Haydeé Artaza, Ksenia Lavrichenko, Anette S. B. Wolff, Ellen Christine Røyrvik, Marc Vaudel, Stefan Johansson

This paper presents a scalable and automated pipeline for analyzing rare copy number variants in case-control studies using SNP array data, enabling efficient CNV detection, quality control, and impact assessment.

BMC Bioinformatics · Nov 15, 2024Peer-reviewedBioinformatics