Author

Rebecca Kaufman

Children's Hospital of PhiladelphiaORCID 0000-0001-8535-9730Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Organism:human· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1

Frequent Co-Authors

Douglas R. StewartiD· 3 shared Jung KimiD· 3 shared Sharon J. DiskiniD· 3 shared Zalman VaksmaniD· 3 shared Adam Cain ResnickiD· 2 shared Daniel P. MilleriD· 2 shared Jo Lynne RokitaiD· 2 shared Kristina Ann ColeiD· 2 shared

Activity by Year

2023-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersBioinformatics

Douglas R. StewartORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

BioinformaticsBioinformaticsPeer-reviewedFeb 27, 2024

AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification

Jung Kim, Ammar S. Naqvi, Ryan J. Corbett…·Sharon J. Diskin

AutoGVP classifies germline variants using ClinVar and modified InterVar criteria, enabling large-scale variant pathogenicity assessment in research.

17 citationstop 4%

whole-exome sequencingwhole-genome sequencing

𝕏 PostBluesky

GenomicsCell GenomicsPeer-reviewedMay 31, 2023

OpenPBTA: An Open Pediatric Brain Tumor Atlas

Joshua A. Shapiro, Krutika Satish Gaonkar, Stephanie J. Spielman…·Jaclyn Taroni

OpenPBTA provides a collaborative platform to genomically characterize 1,074 pediatric brain tumors and 22 cell lines, offering analysis modules and somatic datasets for research and clinical applications.

69 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintJan 23, 2023

Germline pathogenic variants in 786 neuroblastoma patients

Jung Kim, Zalman Vaksman, Laura E. Egolf…·Sharon J. Diskin

This study identifies 13.9% of neuroblastoma patients with pathogenic germline variants in cancer predisposition genes, associated with worse survival and enriched in DNA repair genes like BARD1.

6 citations

humanwhole-exome sequencing

𝕏 PostBluesky