Author

ClinGen Variant Classification Working Group

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Bioinformatics· 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

Anne O’Donnell‐LuriaiD· 1 shared ClinGen Computational Working Group· 1 shared Haneen AbderrazzaqiD· 1 shared Larry Babb· 1 shared Mugdha SinghiD· 1 shared Predrag Radivojac AiD· 1 shared Steven E. BrenneriD· 1 shared Timothy R. BergquistiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

9 top collaborators · 36 mutual co-author links

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1 shared paperBioinformatics

Anne O’Donnell‐LuriaORCID

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1 paper

Recent·Most cited

Calibration of in-frame indel variant effect predictors for clinical variant classification

Haneen Abderrazzaq, Mugdha Singh, Larry Babb, Timothy R. Bergquist, Steven E. Brenner, Vikas Rao Pejaver, Anne O’Donnell‐Luria, Predrag Radivojac A, ClinGen Computational Working Group, ClinGen Variant Classification Working Group

This study calibrates in-frame indel variant effect predictors for clinical classification, showing they reach multiple evidence levels but perform worse than missense predictors.

bioRxiv · Apr 18, 2026 · PreprintBioinformatics