Author

Thomas Minten

KU LeuvenORCID 0009-0004-0412-5393Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1

Frequent Co-Authors

Aaron J. GoldenbergiD· 2 shared Amy GaviglioiD· 2 shared Cynthia M. PowelliD· 2 shared Dalia KasperavičiūtėiD· 2 shared David P BickiD· 2 shared A L RobertsiD· 1 shared Ada HamoshiD· 1 shared Adithya V. MadduriiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Aaron J. GoldenbergORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 25, 2026

Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BEACONS-NBS

Nina B. Gold, Britt A. Johnson, Harini Somanchi…·Robert C. Green

The paper develops a comprehensive list of genetic conditions for genomic newborn screening, including 777 conditions associated with 743 genes, for implementation across multiple U.S. states and territories.

1 citation

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMay 9, 2025

Data-driven consideration of genetic disorders for global genomic newborn screening programs

Thomas Minten, Sarah Bick, Sophia M. Adelson…·Dominique C. Pichard

The paper develops a machine learning model to prioritize genes for newborn sequencing programs based on factors like evidence of disease natural history and treatment efficacy.

73 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky