Author

Jorge Diaz

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Daniel Mahecha· 1 shared Diego Saldaña· 1 shared Johanna Stepanian· 1 shared Laura Mazabel· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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4 top collaborators · 6 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Daniel Mahecha

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1 paper

Recent·Most cited

Variant calling pipelines for whole exome sequencing in clinical context

Johanna Stepanian, Diego Saldaña, Daniel Mahecha, Laura Mazabel, Jorge Diaz

This study evaluates 24 variant calling pipelines for whole exome sequencing in two samples, finding BWA with Strelka as the most accurate and fastest for SNV detection.

medRxiv · Oct 18, 2024 · PreprintGenetic & Genomic Medicine