Author

Joan Brunet

Instituto de Salud Carlos IIIORCID 0000-0003-1945-3512Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Assay:GWAS summary statistics· 2 Organism:human· 2 Approach:statistical model· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:GWAS / association mapping· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Gabriel CapelláiD· 2 shared Marta PinedaiD· 2 shared Alison M. DunningiD· 1 shared André Lopes CarvalhoiD· 1 shared Andreas J. MayriD· 1 shared Andrew BerchuckiD· 1 shared Andrew Tan ChaniD· 1 shared Angela CoxiD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Gabriel CapelláORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedJun 15, 2023

Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome

Núria Dueñas, Hannah Klinkhammer, Núria Bonifaci…·Joan Brunet

This study evaluates the ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome individuals, finding weak associations in specific subgroups.

11 citations

humanGWAS summary statistics

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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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GenomicsNature CommunicationsPeer-reviewedJan 25, 2019

Shared heritability and functional enrichment across six solid cancers

Xia Jiang, Hilary K. Finucane, Fredrick R. Schumacher…·Patricia A. Ganz

This study quantifies genetic correlations between six solid cancers and other diseases using GWAS data, finding shared heritability and functional enrichment in regulatory regions.

110 citationstop 1%

humanGWAS summary statistics

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