Author

Fernanda Belga Ottoni Porto

Grupo Santa Casa de Belo HorizonteORCID 0000-0002-4308-1766Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anna MatyniaiD· 1 shared Fengxia Yao· 1 shared Irma López· 1 shared Jongsu ChoiiD· 1 shared Keqing Wang· 1 shared Kerry GoetziD· 1 shared Mark Edward PennesiiD· 1 shared Meng Wang· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Anna MatyniaORCID

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1 paper

Recent·Most cited

GeneticsHuman Molecular GeneticsPeer-reviewedFeb 22, 2023

Systematic assessment of the contribution of structural variants to inherited retinal diseases

Shu Wen, Meng Wang, Xinye Qian…·Rui Chen

This study identifies 16 pathogenic structural variants in 16 IRD families using whole-genome sequencing, finding SVs contribute 2.1% to unresolved IRD cases but less than SNVs and indels.

12 citations

humanwhole-exome sequencing

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