Author

Pavlos Antoniou

Wellcome Sanger InstituteORCID 0000-0001-9074-9610Unclaimed 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 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Vivek IyeriD· 2 shared Alejandro SifrimiD· 1 shared Alina FrolovaiD· 1 shared Allan Daly· 1 shared Amilcar Pérez-RiveroliD· 1 shared Anna WilsdoniD· 1 shared Anne‐Karin KahlertiD· 1 shared Anselm Sebastian UebingiD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersBioinformatics

Vivek IyerORCID

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2 papers

Recent·Most cited

BioinformaticsBioinformaticsPeer-reviewedJul 1, 2026

WxS-QC - a quality control pipeline for human Whole-Genome and Whole Exome sequencing cohorts

Gennadii A. Zakharov, Ruth Y. Eberhardt, Alina Frolova…·Vivek Iyer

The paper introduces WxS-QC, a quality control pipeline for human WGS and WES data, and provides an open test dataset to evaluate QC methods.

DOI 10.1093/bioinformatics/btag527

humanwhole-genome sequencing

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Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedJun 2, 2026

Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study

Enrique Audain, Anna Wilsdon, Gregor Dombrowsky…·Marc‐Phillip Hitz

This study identifies rare variants and digenic interactions associated with congenital heart disease using a large-scale exome case-control analysis.

5 citations

humanwhole-exome sequencing

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