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

Read article

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

Read article

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

Read article

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

Read article

Complex Linkage Disequilibrium Effects in HLA-DPB1 Expression and Molecular Mismatch Analyses of Transplantation Outcomes.

Shieh M, *Hayeck TJ, Dinh A, Duke JL, Chitnis N, Mosbruger T, Morlen RP, Ferriola D, Kneib C, Hu T, Huang Y, Monos DS, Transplantation 105(3): 637-647, 2021

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.

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, Hum Genomics 15(1): 44, 2021