Author

Diana Mitter

University Hospital LeipzigORCID 0000-0001-9535-9494Unclaimed 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· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Saskia BiskupiD· 2 shared Susanne B. KamphauseniD· 2 shared Alain VerloèsiD· 1 shared Alexej KnausiD· 1 shared Alfredo OrricoiD· 1 shared Allan BayatiD· 1 shared Alma Kuechler· 1 shared Andreas MerkenschlageriD· 1 shared

Activity by Year

2019-2019 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersBioinformatics

Saskia BiskupORCID

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2 papers

Recent·Most cited

BioinformaticsGenetics in MedicinePeer-reviewedJun 4, 2019

PEDIA: Prioritization of Exome Data by Image Analysis

Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel…·Peter Michael Krawitz

The paper introduces an AI-driven method that uses facial images to prioritize exome data, achieving 99% top-10 accuracy in identifying disease-causing genes.

88 citationstop 2%

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintMar 26, 2019

Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders

Benjamin Büttner, Sonja Martin, Anja Finck…·Rami Abou Jamra

The paper evaluates negative exome sequencing in neurodevelopmental disorders by systematically scoring candidate genes to improve prioritization and validation.

1 citation

humanwhole-exome sequencing

𝕏 PostBluesky