Author

Carlos L. Araya

LabCorp (United States)ORCID 0000-0002-5512-3062Unclaimed ORCID profile · follow to get notified of new preprints

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Carlos L. Araya1 paper

Biology Disciplines

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Genetic & Genomic Medicine· 1

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Organism:human· 1 Approach:machine learning (classical)· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

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Alexander Wahl· 1 shared Alexandre ColaviniD· 1 shared Britt A. JohnsoniD· 1 shared Elaine Y. CheniD· 1 shared Flavia M. FacioiD· 1 shared Hillery C. MetziD· 1 shared Jack Nicoludis· 1 shared Jason ReuteriD· 1 shared

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1 shared paperGenetic & Genomic Medicine

Alexander Wahl

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 3, 2025

The impact of systematized generation, evaluation, and incorporation of machine learning algorithms for clinical variant classification

Laure Frésard, Flavia M. Facio, Elaine Y. Chen…·Keith Nykamp

The paper develops a machine learning platform to improve variant classification, reducing VUS rates and improving concordance with ClinVar submissions.

2 citations

humanwhole-exome sequencing

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