Author

Thomas Blackwell

Boston University

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:scATAC-seq· 1

Frequent Co-Authors

Brian E. CadeiD· 2 shared Daniel A LevyiD· 2 shared Laura M. RaffieldiD· 2 shared Pramod AnuguiD· 2 shared Ramachandran Srini VasaniD· 2 shared Susan S RedlineiD· 2 shared Abecasis Gb· 1 shared Achilleas PitsillidesiD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetics

Brian E. CadeORCID

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2 papers

Recent·Most cited

cellSTAAR: Incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of non-coding regions

Eric Van Buren, Yi Zhang, Xihao Li, Margaret Sunitha Selvaraj, Zilin Li, Hufeng Zhou, Nicholette D. Palmer, Donna K. Arnett, John Blangero, Eric Boerwinkle, Brian E. Cade, Jenna C. Carlson, April P. Carson, Yii-Der Ida Chen, Joanne E. Curran, , Russell Bowler

cellSTAAR integrates single-cell ATAC-seq with whole-genome sequencing to enhance power and interpretation of rare variant association tests in non-coding regions.

Nature Methods · Dec 31, 2025Peer-reviewedGenetics

Presence and Transmission of Mitochondrial Heteroplasmic Mutations in Human Populations of European and African Ancestry

Chunyu Liu, Jessica L. Fetterman, Yong Qian, Xianbang Sun, Kaiyu Yan, Thomas Blackwell, Achilleas Pitsillides, Brian E. Cade, Heming Wang, Laura M. Raffield, Leslie A. Lange, Pramod Anugu, Gonçalo Abecasis, L. Adrienne Cupples, Susan S Redline, , Daniel A Levy

The paper examines the concordance and characteristics of mitochondrial heteroplasmic mutations in maternal pairs of European and African ancestry, finding higher concordance in close relatives and associations with age and nuclear genome regions.

Mitochondrion · Jul 21, 2021Peer-reviewedGenetics