Author

Marcia Anahí Hasenahuer

European Bioinformatics InstituteORCID 0000-0002-0524-1116Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alba Sanchis‐JuaniD· 2 shared Frances Lucy RaymondiD· 2 shared James Alexander BakeriD· 2 shared Janet M. ThorntoniD· 2 shared Amy McTagueiD· 1 shared Christine Anne OrengoiD· 1 shared James D. StephensoniD· 1 shared Katy E BarwickiD· 1 shared

Activity by Year

2020-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersBioinformatics

Alba Sanchis‐JuanORCID

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2 papers

Recent·Most cited

BioinformaticsJournal of Molecular BiologyPeer-reviewedNov 21, 2022

Mapping the Constrained Coding Regions in the human genome to their corresponding proteins

Marcia Anahí Hasenahuer, Alba Sanchis‐Juan, Roman Aleksander Laskowski…·Janet M. Thornton

The paper maps constrained coding regions in the human genome to their corresponding proteins and identifies protein features associated with high constraint for variation.

2 citations

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsMolecular Genetics & Genomic MedicinePeer-reviewedApr 29, 2020

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate

Alba Sanchis‐Juan, Marcia Anahí Hasenahuer, James Alexander Baker…·Frances Lucy Raymond

The paper identifies a novel de novo missense variant in GABRA2 associated with EIEE and analyzes structural impacts of seven variants across Cys-loop receptors.

9 citations

humanwhole-genome sequencing

𝕏 PostBluesky