Author

Jone Marius Vignes

Haukeland University Hospital

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Bioinformatics· 1

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Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

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Aashish SrivastavaiD· 1 shared Anders JemtiD· 1 shared Ashish Kumar SinghiD· 1 shared D. T. AndreaseniD· 1 shared Edda María Elvarsdóttir· 1 shared Eevi KaasineniD· 1 shared Eiríkur BriemiD· 1 shared Emilie Sofie EngdaliD· 1 shared

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Recent·Most cited

BioinformaticsGenome MedicinePeer-reviewedOct 17, 2025

Recommendations for Bioinformatics in Clinical Practice

Ksenia Lavrichenko, Emilie Sofie Engdal, Rasmus L. Marvig…·Frederik Otzen Bagger

This paper provides consensus recommendations for standardizing bioinformatics practices in clinical whole genome sequencing to ensure accuracy, reproducibility, and comparability of results.

21 citations

humanwhole-genome sequencing

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