Author

John Michael O. Rañola

Ambry Genetics (United States)ORCID 0000-0001-6177-4227Unclaimed ORCID profile · follow to get notified of new preprints

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Genetics· 1

Signature Assays, Organisms & Methods

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Assay:GWAS summary statistics· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

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Brian H. ShirtsiD· 1 shared Carolyn HortoniD· 1 shared Lea M. StaritaiD· 1 shared Shawn FayeriD· 1 shared Tina F. PesaraniD· 1 shared

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2024-2024 · peak 1/yr

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1 shared paperGenetics

Brian H. ShirtsORCID

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1 paper

Recent·Most cited

GeneticsBMC BioinformaticsPeer-reviewedSep 6, 2024

Assigning credit where it's due: An information content score to capture the clinical value of Multiplexed Assays of Variant Effect

John Michael O. Rañola, Carolyn Horton, Tina F. Pesaran…·Brian H. Shirts

The paper introduces an information content score to quantify the clinical value of MAVEs, showing it captures more information than just reclassifying variants.

1 citation

humanGWAS summary statistics

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