Author

Eva Medico Salsench

Erasmus MCORCID 0000-0002-0263-0458Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Assay:ChIP-seq· 2 Organism:human· 2 Approach:statistical model· 2 Approach:deep learning· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:fine-mapping· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Anita Nikoncuk· 2 shared Elena PerenthaleriD· 2 shared Eskeatnaf MulugetaiD· 2 shared Kristina LankoiD· 2 shared Ruizhi DengiD· 2 shared Soheil YousefiiD· 2 shared Tahsin Stefan BarakatiD· 2 shared Gennady V. RoshchupkiniD· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anita Nikoncuk

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2 papers

Recent·Most cited

BRAIN-MAGNET: A novel functional genomics atlas coupled with convolutional neural networks facilitates clinical interpretation of disease relevant variants in non-coding regulatory elements

Ruizhi Deng, Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Kristina Lanko, Rachel Schot, Michela Maresca, Eva Medico Salsench, Leslie E. Sanderson, Michael James Parker, Wilfred F. J. van IJcken, Joohyun Park, Marc Sturm, Tobias B. Haack, Gennady V. Roshchupkin, , Tahsin Stefan Barakat

The paper develops BRAIN-MAGNET, a convolutional neural network that predicts non-coding regulatory element activity and helps prioritize disease-causing variants in neurogenetic disorders.

medRxiv · Apr 13, 2024 · PreprintGenetic & Genomic Medicine

Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance

Soheil Yousefi, Ruizhi Deng, Kristina Lanko, Eva Medico Salsench, Anita Nikoncuk, Herma C. van der Linde, Elena Perenthaler, Tjakko J. van Ham, Eskeatnaf Mulugeta, Tahsin Stefan Barakat

The paper identifies 39,709 differentially active enhancers in human fetal brain development linked to neurodevelopmental disorders and GWAS loci.

Genome Medicine · Oct 18, 2021Peer-reviewedGenomics