Selected Publications

Hu T, Mosbruger TL, Tairis NG, Dinou A, Jayaraman P, Sarmady M, Brewster K, Li Y, Hayeck TJ, Duke JL, Monos DS.: Targeted and complete genomic sequencing of the major histocompatibility complex in haplotypic form of individual heterozygous samples. Genome Res 34(10): 1500-1513, Oct 2024 Notes: doi: 10.1101/gr.278588.123.

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.: Machine Learning Insights into HLA Noncoding Sequence Mismatches and Their Impact on DPB1 Matching in Hematopoietic Cell Transplantation. MedRxiv Sept 2024 Notes: doi: https://doi.org/10.1101/2024.09.13.24313580.

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.: Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation. Am J Hum Genet 8(111): 1656-1672, Aug 2024 Notes: https://pubmed.ncbi.nlm.nih.gov/39327030/

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.: The Impact of Patterns in Linkage Disequilibrium and Sequencing Quality on the Imprint of Balancing Selection. Genome Biology and Evolution 1;16(2), Feb 2024 Notes: doi: 10.1093/gbe/evae009.

Tristan Hayeck: Polygenic Risk Scores: Genomes to Risk Prediction. Clinical Chemistry Podcast. https://www.myadlm.org/science-and-research/clinical-chemistry/clinical-chemistry-podcasts/2023/polygenic-risk-scores_genomes-to-risk-prediction (eds.). June 2023.

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: 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. Front Genet. 23(14), Jan 2023 Notes: 1004138. doi: 10.3389/fgene.2023.

Hayeck TJ, Busby GB, Chun Sung, Lewis ACF, Roberts MC, BJ Vilhjálmsson: Polygenic Risk Scores: Genomes to Risk Prediction. Clinical Chemistry 69(6): 551-557, 2023 Notes: https://doi.org/10.1093/clinchem/hvad049.

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: Ancestry adjustment improves genome-wide estimates of regional intolerance. Genetics 221(2): iyac050, Apr 2022 Notes: doi: 10.1093/genetics/iyac050.

Shieh M, *Hayeck TJ, Dinh A, Duke JL, Chitnis N, Mosbruger T, Morlen RP, Ferriola D, Kneib C, Hu T, Huang Y, Monos DS : Complex Linkage Disequilibrium Effects in HLA-DPB1 Expression and Molecular Mismatch Analyses of Transplantation Outcomes. Transplantation 105(3): 637-647, March 2021.

Padhi EM, Hayeck TJ, Cheng Z, Chatterjee S, Mannion BJ, Byrska-Bishop M, Willems M, Pinson L, Redon S, Benech C, Uguen K, Audebert-Bellanger S, Le Marechal C, Férec C, Efthymiou S, Rahman F, Maqbool S, Maroofian R, Houlden H, Musunuri R, Narzisi G, Abhyankar A, Hunter RD, Akiyama J, Fries LE, Ng JK, Mehinovic E, Stong N, Allen AS, Dickel DE, Bernier RA, Gorkin DU, Pennacchio LA, Zody MC, Turner TN: Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism. Hum Genomics 15(1): 44, 2021.