Stephen CJ Parker, PhD
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Center Memberships
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Center MemberCaswell Diabetes Institute
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Center MemberAI and Digital Health Innovation
Research Overview
We generate multiple high-throughput data sets on the genome, epigenome, and transcriptome across species and in disease-relevant tissues/cells at single-cell multi-omic resolution and use machine learning computational approaches to integrate and analyze this data. We aim to better understand the effects of genetic variation on chromatin architecture and transcriptional regulation at single-cell resolution. The major goal of the lab is to generate mechanistic knowledge about how disease susceptibility is encoded in the non-coding portion of the genome (from GWAS), with a focus on complex metabolic diseases including diabetes and related traits. We accomplish this through an interdisciplinary combination of molecular, cellular, and computational approaches.
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Parker Lab
Recent Publications
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Tovar A, Kyono Y, Nishino K, Bose M, Varshney A, Parker SCJ, Kitzman JO. HGG Adv, 2026 Apr 7; 100606Journal ArticleUsing a modular massively parallel reporter assay to discover context-dependent regulatory activity in type 2 diabetes-linked noncoding regions.
DOI:10.1016/j.xhgg.2026.100606 PMID: 41952336 -
Mears J, Orchard P, Varshney A, Bose M, Robertson CC, Piper M, Pashos E, Dolgachev V, Manickam N, Jean P, Kitzman DW, Fauman EB, Damilano F, Roth Flach RJ, Nicklas B, Parker SCJ. 2026 Apr 5; bioRxiv,PreprintGenetic demultiplexing and transcript start site identification from nanopore sequencing of 10x Genomics multiome libraries
DOI:10.64898/2026.03.31.715454 -
Bate TSR, Huang Y, Luo X, Saunders DC, Walker JT, Rai V, Parker SCJ, Liu J, Brissova M. Diabetology International, 2026 Apr 1; 17 (2):Journal ArticleRFX6 expression is central to the development and function of the neuroendocrine compartments of the pancreas and intestine and strongly affects diabetes risk
DOI:10.1007/s13340-025-00867-1 -
Ventresca C, Varshney A, Orchard P, Vu HTH, Tsan Y-C, Monteiro da Rocha A, Erdos MR, Kinnunen L, Lakka TA, Saramies J, Laakso M, Tuomilehto J, Mohlke KL, Boehnke M, Scott LJ, Koistinen HA, Collins FS, Herron T, Bielas S, Parker SCJ. 2026 Feb 6;PreprintDonor-matched iPSC model reveals context-dependent T2D genetic signals in fibro-adipogenic progenitors.
DOI:10.64898/2026.02.04.702388 PMID: 41676558 -
Chalhoub N, Varshney A, Zhang W, Uhl S, Laurent JM, McLoughlin C, Ashe H, Mou X, Dale N, Ramnarine K, Paull D, Goldberg J, Maurano MT, Brosh R, Fenyö D, Cipriani F, Parker SCJ, Boeke JD. bioRxiv, 2026 Jan 4;Journal ArticleGenome writing and Targeted Delivery of the NKX6-3/ANK1 gene cluster and its Type 2 Diabetes GWAS Variants to Human iPSCs.
DOI:10.64898/2026.01.04.697539 PMID: PMC12776320 -
Soenksen J, Chen J, Varshney A, Martin S, Parker SCJ, Morris AP, Asimit JL, Barroso I. Human Molecular Genetics, 2026 Jan 1; 35 (2):Journal ArticleCombining functional annotation and multi-trait fine-mapping methods improves fine-mapping resolution at glycaemic trait loci
DOI:10.1093/hmg/ddaf164 PMID: 41251494 -
Luo X, Huang Y, Zeng H, Tao Y, Bao X, Feng F, Hopkirk AL, Pham T, Bate TSR, Saunders DC, Orchard P, Robertson C, Shrestha S, Spraggins JM, Cartailler JP, Parker SCJ, Brissova M, Liu J. Nucleic Acids Research, 2025 Dec 11; 53 (22):Journal ArticleCelLink: integrating single-cell multi-omics data with weak feature linkage and imbalanced cell populations
DOI:10.1093/nar/gkaf1270 PMID: 41335468 -
Ciotlos DL, Hanks SC, Varshney A, Erdos MR, Manickam N, Stringham HM, Orchard P, Hill-Burns EM, Narisu N, Bonnycastle LL, Sweeney MD, Saramies J, Laakso M, Tuomilehto J, Lakka TA, Mohlke KL, Boehnke M, Collins FS, Koistinen HA, Parker SCJ, Scott LJ. 2025 Nov 28;PreprintInverse directions of association of higher physical activity and higher insulin resistance with human skeletal muscle cell type abundance and fiber-type-level gene expression.
DOI:10.1101/2025.10.27.683567 PMID: 41279274
Featured News & Stories
A New Collaborative to Better Predict, Prevent, and Treat Type 1 Diabetes
Stephen Parker gave the C. Ronald Kahn Distinguished Lecture at Harvard University
Adelaide Tovar, Ph.D., received a MOSAIC K99/R00 Award from the NIH/NHGRI
Five DCMB faculty are promoted, congratulations!
Stephen C.J. Parker, PhD, receives 2024 Outstanding Scientific Achievement Award from American Diabetes Association (ADA)