Author

Thomas C. Markello

National Institutes of HealthORCID 0000-0002-2298-9759Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Developmental Biology· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:cell-cell communication· 1 Approach:experimental assay· 1

Frequent Co-Authors

David R. AdamsiD· 2 shared Lynne A. WolfeiD· 2 shared William Allen GahliD· 2 shared Álex RodrígueziD· 1 shared Andressa Mota· 1 shared Andrew W. CarrolliD· 1 shared Angela HoiD· 1 shared Benedict PateniD· 1 shared

Activity by Year

2020-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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2 shared papersMolecular Biology

David R. AdamsORCID

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3 papers

Recent·Most cited

BioinformaticsGenome ResearchPeer-reviewedApr 28, 2022

A Complete Pedigree-Based Graph Workflow for Rare Candidate Variant Analysis

Charles J. Markello, Charles Huang, Álex Rodríguez…·Benedict Paten

The paper introduces a pedigree-aware workflow using pangenome graphs to improve variant calling in rare disease analysis, detecting more deleterious variants in probands than unaffected siblings.

6 citations

humanwhole-genome sequencing

𝕏 PostBluesky

Molecular BiologybioRxivPreprintNov 3, 2020

Forkhead box R1-mediated stress response linked to a case of human microcephaly and brain atrophy

Andressa Mota, Rui Hong, Sheng-Yong Niu…·Angela Ho

The paper identifies a de novo FOXR1 variant causing microcephaly and brain atrophy by impairing stress response pathways.

DOI 10.1101/2020.11.03.366740

humanbulk RNA-seq

𝕏 PostBluesky

Developmental BiologyDisease Models & MechanismsPeer-reviewedJan 1, 2020

Deficiency in the endocytic adaptor protein PHETA1/2 impairs renal and craniofacial development

Kristin M. Ates, Tong Wang, Trevor Moreland…·Y. Albert Pan

This study investigates the role of PHETA1/2 in zebrafish, showing that their deficiency causes renal and craniofacial defects, and links a patient variant to disease pathogenesis.

9 citations

zebrafishexperimental assay

𝕏 PostBluesky