Haplotypic resolution of the challenging genomic regions of MHC and KIR using a combination of targeted sequencing and a novel assembly pipeline.

Mosbruger TL, Dinou A, Duke JL, Ferriola D, Li Y, Hayeck TJ, Monos DS., Nucleic Acids Res 53(10): , 2025

Functional Category-Specific Intolerance Reflects Genic Function and Clinical Relevance

Duan Y, Stavrianidis C, Shaw GT wen, Sottolano C, Rajagopalan R, Jadhav T, Rhodes GE, Hayeck TJ, Allen AS, http://biorxiv.org/lookup/doi/10.1101/2025.09.24.678298, 2025

Targeted and complete genomic sequencing of the major histocompatibility complex in haplotypic form of individual heterozygous samples.

Hu T, Mosbruger TL, Tairis NG, Dinou A, Jayaraman P, Sarmady M, Brewster K, Li Y, Hayeck TJ, Duke JL, Monos DS., Genome Res 34(10): 1500-1513, 2024, PMID:39327030

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Machine Learning Insights into HLA Noncoding Sequence Mismatches and Their Impact on DPB1 Matching in Hematopoietic Cell Transplantation.

Askar, Medhat, Timothy L Mosbruger, Grace Tzun-wen Shaw, Haedong Kim, Yuncheng Duan, Andrew S Allen, Jamie L Duke, Timothy S Olson, Dimitri S Monos, and Tristan J Hayeck., MedRxiv, 2024

Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.

Gilbert MA, Keefer-Jacques E, Jadhav T, Antfolk D, Ming Q, Valente N, Shaw GT, Sottolano CJ, Matwijec G, Luca VC, Loomes KM, Rajagopalan R, Hayeck TJ, Spinner NB., Am J Hum Genet 8(111): 1656-1672, 2024

The Impact of Patterns in Linkage Disequilibrium and Sequencing Quality on the Imprint of Balancing Selection.

Hayeck, T. J., Li, Y., Mosbruger, T. L., Bradfield, J. P., Gleason, A. G., Damianos, G., Shaw, G. T.-W., Duke, J. L., Conlin, J. L., Turner, T. N., Fernández-Viña, M. A., Sarmady, M., & Monos, D. S., Genome Biology and Evolution 1;16(2): , 2024, PMID:38302106

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Polygenic Risk Scores: Genomes to Risk Prediction

Tristan Hayeck, Clinical Chemistry Podcast, 2023

A combination of HLA-DP α and β chain polymorphisms paired with a SNP in the DPB1 3' UTR region, denoting expression levels, are associated with atopic dermatitis.

Margolis DJ, Duke JL, Mitra N, Berna RA, Hoffstad OJ, Wasserman JR, Dinou A, Damianos G, Kotsopoulou I, Tairis N, Ferriola DA, Mosbruger TL, Hayeck TJ, Yan AC, Monos DS, Front Genet. 23(14): , 2023, PMID:36911412

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Polygenic Risk Scores: Genomes to Risk Prediction

Hayeck TJ, Busby GB, Chun Sung, Lewis ACF, Roberts MC, BJ Vilhjálmsson, Clinical Chemistry 69(6): 551-557, 2023

Ancestry adjustment improves genome-wide estimates of regional intolerance.

Hayeck, T.J., Stong, N., Baugh, E., Dhindsa, R., Turner, T.N., Malakar, A., Mosbruger, T.L., Duan, Y., Ionita-Laza, I., Goldstein, D. and Allen, A.S, Genetics 221(2): iyac050, 2022, PMID:35385101

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