Author

Raphael O. Betschart

ORCID 0000-0002-0582-3861Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 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:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Andreas ZiegleriD· 2 shared Raphael TwerenboldiD· 2 shared Stefan BlankenbergiD· 2 shared Tanja ZelleriD· 2 shared Alexandre Thiéry· 1 shared Domingo Aguilera‐GarciaiD· 1 shared Georgios KoliopanosiD· 1 shared Holger MochiD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

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10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Andreas ZieglerORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineBioMedPeer-reviewedJun 4, 2024

Comprehensive analysis of the genetic variation in the LPA gene from short-read sequencing

Raphael O. Betschart, Georgios Koliopanos, Paras Garg…·Andreas Ziegler

The paper analyzes genetic variation in the LPA gene using short-read sequencing to predict LP(a) concentration, finding allele-specific KIV-2 CN provides better prediction than total CN.

2 citations

humanwhole-genome sequencing

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BioinformaticsScientific ReportsPeer-reviewedDec 13, 2022

Comparison of calling pipelines for whole genome sequencing: an empirical study demonstrating the importance of mapping and alignment

Raphael O. Betschart, Alexandre Thiéry, Domingo Aguilera‐Garcia…·Andreas Ziegler

This study compares WGS pipelines, finding DRAGEN outperforms GATK in speed and accuracy for variant calling and mapping.

46 citations

humanwhole-genome sequencing

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