Author

Jesús Del Valle

Instituto de Salud Carlos IIIORCID 0000-0003-3607-7045Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1

Signature Assays, Organisms & Methods

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Approach:benchmark study· 1 Research Focus:benchmarking· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Bernat GeliD· 1 shared Conxi LázaroiD· 1 shared Eduard SerraiD· 1 shared Elisabeth CastellanosiD· 1 shared Gabriel CapelláiD· 1 shared Joan BrunetiD· 1 shared José Marcos Moreno-CabreraiD· 1 shared Lídia FeliubadalóiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

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9 top collaborators · 36 mutual co-author links

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1 shared paperBioinformatics

Bernat GelORCID

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1 paper

Recent·Most cited

BioinformaticsEuropean Journal of Human GeneticsPeer-reviewedJun 19, 2020

Benchmark of tools for CNV detection from NGS panel data in a genetic diagnostics context

José Marcos Moreno-Cabrera, Jesús Del Valle, Elisabeth Castellanos…·Bernat Gel

This study benchmarks CNV detection tools on NGS panel data for genetic diagnostics, finding DECoN and panelcn.MOPS suitable as screening methods with optimized parameters.

123 citationstop 1%

whole-exome sequencingbenchmark study

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