Author

José Marcos Moreno-Cabrera

Instituto de Salud Carlos IIIORCID 0000-0001-8570-0345Unclaimed 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 Jesús Del ValleiD· 1 shared Joan BrunetiD· 1 shared Lídia FeliubadalóiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

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

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

José Marcos Moreno-Cabrera, Jesús Del Valle, Elisabeth Castellanos, Lídia Feliubadaló, Marta Pineda, Joan Brunet, Eduard Serra, Gabriel Capellá, Conxi Lázaro, 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.

European Journal of Human Genetics · Jun 19, 2020Peer-reviewedBioinformatics