Author

Evelin Gonzalez

Centre National de la Recherche ScientifiqueORCID 0009-0005-3978-5559Unclaimed ORCID profile · follow to get notified of new preprints

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Evelin Gonzalez1 paper · Universidad del Desarrollo

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alex Di GenovaiD· 1 shared Carol MoragaiD· 1 shared Gonzalo Vigueras Stari· 1 shared Javier Anabalón Ramos· 1 shared Juan Francisco MiqueliD· 1 shared Lilian Jara SiD· 1 shared Manuel Muñoz· 1 shared Mylene Cabrera Morales· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alex Di GenovaORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 25, 2024

A workflow for clinical profiling of BRCA genes in Chilean breast cancer patients via targeted sequencing

Evelin Gonzalez, Rodrigo Moreno Salinas, Manuel Muñoz…·Alex Di Genova

The paper develops a Nextflow pipeline for BRCA1/2 variant detection in Chilean breast cancer patients using targeted sequencing and variant callers, identifying one pathogenic variant among 16 samples.

DOI 10.1101/2024.09.25.24314295

humanwhole-exome sequencing

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