Author

Angshumoy Roy

Baylor College of MedicineORCID 0000-0001-7248-8576Unclaimed 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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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1

Frequent Co-Authors

Andras Attila HeczeyiD· 1 shared Barry Zorman· 1 shared Christine MicheeliD· 1 shared Cintia Perez· 1 shared Deborah RitteriD· 1 shared Dmitriy SonkiniD· 1 shared Dolores H Lopez-TerradaiD· 1 shared Donald Williams ParsonsiD· 1 shared

Activity by Year

2017-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 14 mutual co-author links

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1 shared paperGenomics

Andras Attila HeczeyORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

GenomicsJournal of HepatologyPeer-reviewedFeb 28, 2026

Asynchronous Transitions from Hepatoblastoma to Carcinoma in High-Risk Pediatric Tumors

Xinjian Yu, Stephen Frederick Sarabia, Martin Urbicain…·Pavel Sumazin

The paper characterizes hepatoblastoma with carcinoma features (HBCs) using multi-omics data, revealing their heterogeneous composition, worse outcomes, and origin from arrested HB cells due to WNT signaling.

1 citation

humansnRNA-seq

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Genetic & Genomic MedicineGenetics in Medicine OpenPeer-reviewedJan 1, 2024

Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity

Owen Hirschi, Stephanie A. Felker, Surya P. Rednam…·Sharon E. Plon

The paper evaluates the pathogenicity of intronic and synonymous variants using splicing prediction algorithms and in vitro assays, identifying potentially disease-causing variants previously classified as benign.

6 citations

humanwhole-exome sequencing

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BioinformaticsPacific Symposium on Biocomputing (PSB)Peer-reviewedNov 17, 2017

Clingen Cancer Somatic Working Group: standardizing and democratizing access to cancer molecular diagnostic data to drive translational research

Subha Madhavan, Deborah Ritter, Christine Micheel…·On Behalf Of The Clingen Somatic Working Group

The paper describes the development of standards for cancer variant interpretation and sharing through the ClinGen Cancer Somatic Working Group.

19 citationstop 1%

humanwhole-exome sequencing

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