Author

Benjamin McLean

University of North Carolina at Chapel HillORCID 0000-0003-1713-1755Unclaimed 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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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Abduarahman Almutairi· 1 shared Agustin Bernacchia· 1 shared Alejandro Nieto-PatlániD· 1 shared Alice Y. K. ChaniD· 1 shared Anita Chacko· 1 shared Bo YuaniD· 1 shared Brian Chung· 1 shared Britt A. JohnsoniD· 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 paperGenetic & Genomic Medicine

Abduarahman Almutairi

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedOct 15, 2025

The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2

Vanessa Cristina Jacovas, Michelle Zelnick, Shannon M. McNulty…·Xinrui Shi

The paper develops SCID-specific variant classification guidelines by adapting ACMG/AMP criteria for seven SCID-related genes using expert review and a pilot variant set.

9 citationstop 3%

humanstatistical model

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