Author

Yann Thoma

HES-SO University of Applied Sciences and Arts Western SwitzerlandORCID 0000-0003-4374-6104Unclaimed 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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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ioannis XénariosiD· 1 shared Olivier DelaneauiD· 1 shared Rick WertenbroekiD· 1 shared Robin J. HofmeisteriD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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4 top collaborators · 6 mutual co-author links

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1 shared paperGenomics

Ioannis XénariosORCID

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1 paper

Recent·Most cited

GenomicsPLoS GeneticsPeer-reviewedJul 3, 2024

Improving population scale statistical phasing with whole-genome sequencing data

Rick Wertenbroek, Robin J. Hofmeister, Ioannis Xénarios…·Olivier Delaneau

This paper introduces SAPPHIRE, a method that improves haplotype phasing accuracy using whole-genome sequencing data by refining phase calls with read-level information.

5 citations

humanwhole-genome sequencing

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