Author

Jan-Karl Burkhardt

University of PennsylvaniaORCID 0000-0001-8381-0313Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adam J. KundishoraiD· 1 shared Michael Reid GoochiD· 1 shared Pascal Jabbour· 1 shared Penn Medicine Biobank· 1 shared Pious D. PateliD· 1 shared Sanjana R. SalwiiD· 1 shared Scott M. DamraueriD· 1 shared Stavropoula I. TjoumakarisiD· 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 paperGenetic & Genomic Medicine

Adam J. KundishoraORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 14, 2026

Toward Population-Level Brain AVM Screening: Construction and Evaluation of a Two-Step Genetic Risk Model Incorporating Rare Mendelian Variants and a Novel Polygenic Risk Score

Pious D. Patel, Sanjana R. Salwi, Penn Medicine Biobank…·Theodore G. Drivas

This paper develops a two-step genetic risk model for brain arteriovenous malformations (bAVM) using rare Mendelian variants and a polygenic risk score, identifying high-risk individuals with improved screening efficiency.

DOI 10.64898/2026.09.13.26362963

humanwhole-exome sequencing

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