Author

Diego Saldaña

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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 Johanna Stepanian· 1 shared Jorge Diaz· 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

Genetic & Genomic MedicinemedRxivPreprintOct 18, 2024

Variant calling pipelines for whole exome sequencing in clinical context

Johanna Stepanian, Diego Saldaña, Daniel Mahecha…·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.

DOI 10.1101/2024.10.18.24315708

humanwhole-exome sequencing

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