Author

Philip Kleinert

Berlin Institute of Health at Charité - Universitätsmedizin BerlinORCID 0000-0003-3964-4877Unclaimed 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 Research Focus:variant effect prediction· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Aida M. AndrésiD· 1 shared Bárbara Domingues BitarelloiD· 1 shared Cesare de FilippoiD· 1 shared Diogo MeyeriD· 1 shared João C. TeixeiraiD· 1 shared Joshua M. SchmidtiD· 1 shared Martin KircheriD· 1 shared

Activity by Year

2018-2022 · peak 1/yr

Co-Author Collaboration Network

7 top collaborators · 15 mutual co-author links

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1 shared paperGenetics

Aida M. AndrésORCID

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2 papers

Recent·Most cited

BioinformaticsGenome ResearchPeer-reviewedApr 1, 2022

CADD-SV - a framework to score the effects of structural variants in health and disease

Philip Kleinert, Martin Kircher

CADD-SV scores structural variants using annotations and random forest models, correlating with known pathogenic and non-coding variants affecting gene expression.

55 citations

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsGenome Biology and EvolutionPeer-reviewedMar 1, 2018

Signatures of long-term balancing selection in human genomes

Bárbara Domingues Bitarello, Cesare de Filippo, João C. Teixeira…·Aida M. Andrés

The paper introduces NCD2, a statistic to detect long-term balancing selection in human genomes, finding it affects 0.6% of genomic windows and 0.8% of positions, with many novel targets.

141 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky