Author

Li Tang

St. Jude Children's Research HospitalORCID 0000-0003-3800-3517Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:Bayesian inference· 1 Organism:human· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

David A. WheeleriD· 1 shared Jamie L. MaciaszekiD· 1 shared Jeffery M. KlcoiD· 1 shared Lu WangiD· 1 shared Mohammad K. EldomeryiD· 1 shared Patrick R. BlackburniD· 1 shared Suraj Sarvode Mothi· 1 shared Taylor Cain· 1 shared

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2024-2024 · peak 1/yr

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9 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

David A. WheelerORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedSep 19, 2024

Evaluation of Bayesian Point-Based System on the Variant Classification of Hereditary Cancer Predisposition Genes

Mohammad K. Eldomery, Jamie L. Maciaszek, Taylor Cain…·Patrick R. Blackburn

The paper evaluates a Bayesian point-based system for variant classification in hereditary cancer genes, finding it reduces variants of uncertain significance compared to ACMG/AMP 2015 guidelines.

6 citations

humanwhole-exome sequencing

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