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Joris R. Vermeesch

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Bioinformatics· 1

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

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Alejandro Sifrim· 1 shared Bart De Moor· 1 shared Dusan Popovic· 1 shared Jan Aerts· 1 shared Yves Moreau· 1 shared

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2016-2016 · peak 1/yr

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Alejandro Sifrim

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1 paper

Recent·Most cited

BioinformaticsbioRxivPreprintJul 20, 2016

Comparison of aggregation methods for multiphenotype exomic variant prioritization

Alejandro Sifrim, Dusan Popovic, Joris R. Vermeesch…·Yves Moreau

This study compares aggregation methods for prioritizing exomic variants in multiphenotype Mendelian disorders, showing that method selection depends on the fraction of uninformative phenotypes.

DOI 10.1101/064899

humanwhole-exome sequencing

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