Author

Birgit Sikkema-Raddatz

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Bioinformatics· 1

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

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Alain Knopperts· 1 shared Cisca WijmengaiD· 1 shared Cleo van Diemen· 1 shared Eddy N de Boer· 1 shared K. Joeri van der VeldeiD· 1 shared Kristin Abbott· 1 shared Lude FrankeiD· 1 shared Morris Swertz· 1 shared

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2016-2016 · peak 1/yr

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1 shared paperBioinformatics

Alain Knopperts

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1 paper

Recent·Most cited

BioinformaticsbioRxivAug 30, 2016

GAVIN - Gene-Aware Variant INterpretation for medical sequencing

K. Joeri van der Velde, Eddy N de Boer, Cleo van Diemen…·Morris Swertz

GAVIN classifies variants with high sensitivity and specificity using gene-specific calibrations, outperforming 12 other tools in a clinical benchmark.

DOI 10.1186/s13059-016-1141-7

humanwhole-exome sequencing

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