Author

Avenida P. H. Rolfs

ORCID 0009-0004-8013-5083Unclaimed 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· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Afërdita TakoiD· 1 shared Agim GjikopulliiD· 1 shared Aliaksandr SkrahiniD· 1 shared Erjon TrojaiD· 1 shared Ermira DervishiiD· 1 shared Gladiola HoxhaiD· 1 shared Mirela TabakuiD· 1 shared Paskal CullufiiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Afërdita TakoORCID

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1 paper

Recent·Most cited

Comparative analysis of WGS and WES for genetic diagnosis in a pediatric Albanian population.

Paskal Cullufi, Mirela Tabaku, Aliaksandr Skrahin, Sonila Tomori, Virtut Velmishi, Ermira Dervishi, Gladiola Hoxha, Agim Gjikopulli, Erjon Troja, Afërdita Tako, Volha Skrahina, Avenida P. H. Rolfs

This study compares whole-genome sequencing (WGS) and whole-exome sequencing (WES) in a pediatric Albanian population, finding WGS more effective in diagnosing rare genetic disorders and identifying complex variants.

medRxiv · Jul 24, 2025 · PreprintGenetic & Genomic Medicine