Author

Naomi Thomson

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Biology Disciplines

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Genomics· 1

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aaron M. Hamby· 1 shared Frank Shih-Chang Ong· 1 shared Jonathan Sheridan· 1 shared Ju-Yuan Chang· 1 shared Kuan-Tsung Li· 1 shared Michael Kubal· 1 shared Ramon M. Felciano· 1 shared Randy Rutz· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Aaron M. Hamby

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1 paper

Recent·Most cited

Evaluating a Standard Benchmark for Gene Prioritization: The InheriNext(R) Algorithm's Integration of Genomic and Phenotypic Information

Ju-Yuan Chang, Kuan-Tsung Li, Yu-Shen Tsai, Michael Kubal, Aaron M. Hamby, Naomi Thomson, Jonathan Sheridan, Shiloh Barfield, Randy Rutz, Frank Shih-Chang Ong, Ramon M. Felciano, Scott Kahn, Shao‐Min Wu

This study benchmarks the InheriNext(R) algorithm for pathogenic variant prioritization using 7,244 whole exome test cases, showing 98.6% sensitivity and consistent performance across diverse scenarios.

bioRxiv · Feb 25, 2025 · PreprintGenomics