Author

Flavia M. Facio

Invitae (United States)ORCID 0000-0002-7472-471XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Approach:machine learning (classical)· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Jason ReuteriD· 2 shared Samskruthi Reddy PadigepatiiD· 2 shared ALEXANDER V. ROBERTSON· 1 shared Alexander Wahl· 1 shared Alexandre ColaviniD· 1 shared Andrew W. CarrolliD· 1 shared April S. Berlyoung· 1 shared BE Johnson· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 18 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Jason ReuterORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 10, 2026

Benchmarking long-read variant sensitivity across ONT and PacBio platforms using known clinically reported variants in a cohort of critically ill newborns

Colby T. Marvin, Joseph M. Devaney, Kati J. Buckingham…·Jessica X. Chong

DOI 10.64898/2026.07.07.26357482

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineCirculation Genomic and Precision MedicinePeer-reviewedJul 18, 2025

Calibrated Functional Data Decreases Clinical Uncertainty for KCNH2-related Long QT Syndrome

Chai‐Ann Ng, Matthew J. O’Neill, Samskruthi Reddy Padigepati…·Brett M. Kroncke

The paper presents a method to reduce clinical uncertainty in KCNH2-related long QT syndrome by using calibrated functional data to classify variants of uncertain significance.

1 citation

𝕏 PostBluesky

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

𝕏 PostBluesky