Author

Sebastian Porębski

Silesian University of TechnologyORCID 0000-0001-9926-4265Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Organism:human· 1 Assay:long-read sequencing· 1 Research Focus:software / tool· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Tomasz StokowyiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

1 paper

Recent·Most cited

GenomicsF1000ResearchPeer-reviewedJun 13, 2022

eXNVerify: coverage analysis for long and short-read sequencing data in clinical context

Sebastian Porębski, Tomasz Stokowy

eXNVerify evaluates genome coverage for clinical sequencing data, focusing on pathogenic variants in BRCA1, TP53, and CFTR, and is available on GitHub and DockerHub.

1 citation

humanwhole-genome sequencing

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