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CSVS Crowdsourcing Group

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Genetic & Genomic Medicine· 1

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

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Beatriz MorteiD· 1 shared Carlos LouceraiD· 1 shared Daniel López-LópeziD· 1 shared Francisco Manuel OrtuñoiD· 1 shared Gema Roldán· 1 shared Gerrit Bostlemann· 1 shared Javier Pérez-FloridoiD· 1 shared Joaquı́n DopazoiD· 1 shared

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1 shared paperGenetic & Genomic Medicine

Beatriz MorteORCID

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1 paper

Recent·Most cited

Unveiling the Landscape of Reportable Genetic Secondary Findings in the Spanish Population: A Comprehensive Analysis Using the Collaborative Spanish Variant Server Database

Rosario Carmona, Javier Pérez-Florido, Gema Roldán, Carlos Loucera, Virginia Aquino, Noemí Toro-Barrios, José Luis Fernández-Rueda, Gerrit Bostlemann, Daniel López-López, Francisco Manuel Ortuño, Beatriz Morte, María Peña-Chilet, Joaquı́n Dopazo, CSVS Crowdsourcing Group

The paper analyzes genetic secondary findings in the Spanish population using the Collaborative Spanish Variant Server database, finding 5% of individuals have reportable variants in 32 ACMG-listed genes.

medRxiv · Aug 1, 2024 · PreprintGenetic & Genomic Medicine