Author

Susanne B. Kamphausen

University Hospital MagdeburgORCID 0000-0003-0176-8786Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Diana MitteriD· 2 shared Saskia BiskupiD· 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

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersBioinformatics

Diana MitterORCID

Mutual co-authors in cluster

Author profile →

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