Email

casey.thornton@bcm.edu

Positions

Assistant Professor

Molecular and Human Genetics
Baylor College of Medicine

Rare and Atypical DIAbetes NeTwork (RADIANT) RNA sequencing and whole genome sequencing analysis and reporting

Assistant Clinical Laboratory Director

Baylor Genetics

Next generation sequencing whole genome and exome sequencing sign out. Cytogenetic constitutional and oncology chromosome analysis and FISH sign out.

Education

PhD from Oregon Health and Science University

06/2022 - Portland

Molecular and Medical Genetics

BS from Rensselaer Polytechnic Institute

06/2015 - Troy

Bioinformatics and Molecular Biology

Fellowship at Baylor College of Medicine

06/2024 - Houston

ABMGG/ACGME Laboratory Genetics and Genomics

Professional Statement

As a clinical laboratory geneticist my ultimate goal is to utilize modern sequencing technologies to resolve the genomic and epigenomic signature of disease states in order to advance precision medicine. My research has previously focused on single-cell epigenetic assay development and bioinformatic analysis of these data sets, to characterizing cell types and cell states in health and disease (cerebral ischemia) using the epigenomic features of chromatin accessibility, transcriptomics, and methylation in human and mouse tissues (Thornton, 2021).

As a faculty member, my work now focuses on clinical whole genome sequencing (WGS) analysis and utilization of RNA sequencing (RNAseq) to resolve complex variants. Clinically, I focus on whole genome analysis for the diagnosis of rare disease at Baylor Genetics.

In my research with the Rare and Atypical Diabetes Network (RADIANT), we aim to define the genetics factors that contribute to rare and atypical diabetes. We pair deep patient phenotyping with genotyping and epigenotyping, to elucidate causative variants in rare and atypical diabetes disorders. We utilize WGS, RNAseq, mitochondrial genome sequencing, and co-segregation analysis to identify diabetes-associated disease genes and to establish genotype-phenotype correlations.

Selected Publications

• O’Connell B. L., Nichols R. V., Pokholok D., Thomas J., Acharya S., Nishida A., Thornton C. A., Co M., Fields A. J., Steemers F.J., Adey A "Atlas-scale single-cell chromatin accessibility using nanowell-based combinatorial indexing." Genome Res. 2023 Feb;33(2):208-217.. Pubmed PMID: 36792372
• Thornton C. A., Mulqueen R. M., Nishida A., Torkenczy K. A., Nishida A., Lowenstein E. G., Fields A. J., Steemers F. J., Zhang W., McConnell H. L., Woltjer R. L., Mishra A., Wright K. M., Adey A. C. "Spatially mapped single-cell chromatin accessibility." Nat Commun. 2021 Feb 24;12(1):1274. Pubmed PMID: 33627658
• Mulqueen R. M., Pokholok D., O’Connell B. L., Thornton C. A., Zhang F., O’Roak B. J., Link J., Yardmici G. G., Sears R. C., Steemers F. J., Adey A. C. "High-content single-cell combinatorial indexing." Nat Biotechnol. 2021 Dec;39(12):1574-1580. Pubmed PMID: 34226710
• Mighell T. L., Nishida A., O’Connell B. L., Miller C. V, Grindstaff S., Thornton C. A., Adey A. C., Doherty D., O’Roak B. J. "Cas12a-Capture: A Novel, Low-Cost, and Scalable Method for Targeted Sequencing." CRISPR J. 2022 Aug;5(4):548-557. Pubmed PMID: 35833801