Author

Giulia F. Del Gobbo

University of OttawaORCID 0000-0001-7368-0033Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:benchmarking· 2 Research Focus:variant effect prediction· 2 Research Focus:batch correction / integration· 1 Research Focus:cell type annotation· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Madeline CouseiD· 2 shared A. Pionzio· 1 shared Abhilasha JakhariD· 1 shared Adriana P. RebeloiD· 1 shared Alba Sanchis‐JuaniD· 1 shared Alexandra AfenjariD· 1 shared Alexandra M. BinderiD· 1 shared Alice GoldenbergiD· 1 shared

Activity by Year

2019-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Madeline CouseORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedMay 16, 2025

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, Amandine Santini…·Radu Harbuz

The paper identifies de novo variants in RNU4-2 and RNU5B-1 as causes of neurodevelopmental disorders by disrupting splicing, with variant location and allele phase influencing clinical severity.

57 citationstop 1%

humanwhole-genome sequencing

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GeneticsNature GeneticsPeer-reviewedJun 27, 2024

A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus

David Pellerin, Giulia F. Del Gobbo, Madeline Couse…·Alba Sanchis‐Juan

The paper identifies a common flanking variant linked to increased meiotic stability at the FGF14-SCA27B repeat locus.

43 citationstop 2%

humanlong-read sequencing

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GenomicsEpigenetics & ChromatinPeer-reviewedAug 9, 2019

Accurate ethnicity prediction from placental DNA methylation data

Victor Yuan, E. Magda Price, Giulia F. Del Gobbo…·Wendy P. Robinson

The paper develops PlaNET, a DNA methylation-based ethnicity classifier for placental samples, achieving high accuracy and outperforming existing methods in population stratification correction.

71 citations

humanDNA methylation

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