My primary research focus is developing statistical and mathematical models for linkage and haplotype analysis. My current research projects include developing a new hidden Markov model for computing the likelihood of pedigree data, implementing new haplotyping algorithms based on sequential imputation that can incorporate linkage disequilibrium for fine mapping with SNP data. In addition, I am developing approximation methods for computing likelihoods of the large complex pedigrees that we have in our Amish family studies.
Gillanders EM, Pearson JV, Sorant AJ, Trent JM, O'Connell JR, Bailey-Wilson JE. The value of molecular haplotypes in a family-based linkage study. Am J Hum Genet 79(3):458-468. 2006. PubMed ID: 16909384
Zeggini E, Damcott CM, Hanson RL, Karim MA, Rayner NW, Groves CJ, Baier LJ, Hale TC, Hattersley AT, Hitman GA, Hunt SE, Knowler WC, Mitchell BD, Ng MC, O'Connell JR, Pollin TI, Vaxillaire M, Walker M, WAng X, Whittaker P, Xiang K, Jia W, Chan JC, Froguel P, Deloukas P, Shuldiner AR, Elbein SC, McCarthy MI, International Type 2 Diabetes 1q Consorium. Variation within the gene encoding the upstream stimulatory factor 1 does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1q. Diabetes (11):3197. 2006. PubMed ID: 16936202
Song Q, Cole JW, O'Connell JR, Stine OC, Gallagher M, Giles WH, Mitchell BD, Wozniak MA, Stern BJ, Sorkin JD, McArdie PF, Naj AC, Xu Q, Gibbons GH, Kittner SJ. Phosphodiesterase 4D polymorphisms and the risk of cerebral infarction in a biracial poulation: the Stroke Prevention in Young Women Study. Hum Mol Genet 15(16)2468-2478. 2006 PubMed ID: 16835261
Damcott CM, Ott SH, Pollin TI, Reinhart LJ, Wang J, O'Connell JR, Mitchell BD, Shuldiner AR. Genetic variation in adiponectin receptor 1 and adiponectin receptor 2 is associated with type 2 diabetes in the Old Order Amish. Diabetes 54(7):2245-2250. 2005 PubMed ID: 15983228
Steinle NI, Pollin TI, O'Connell JR, Mitchell BD, Shuldiner AR. Variants in the ghrelin gene are associated with metabolic syndrome in the Old Order Amish. J Clin Endocrinol Metab 90(12):6672-6677. 2005. PubMed ID: 16204371
Sabra MM, Damcott C, Fu M, Ott S, O'Connell JR, Mitchell BD, Shuldiner AR. Vesicle-associated membrane protein 4, a positional candidate gene on 1q24-q25, is not associated with type 2 diabetes in the Old Order Amish. Mol Genet Metab 85(2):133-139. 2005. PubMed ID: 15896658
McArdle PF, Pollin TI, O'Connell JR, Sorkin JD, Agarwala R, Schaffer AA, Streeten EA, King TM, Shuldiner AR, Mitchell BD. Does having children extend life span? A genealogical study of parity and longevity in the Amish. J Gerontol A Biol Sci Med Sci, 61(2):190-196. 2006. PubMed ID: 16510865
Song Q, Cole JW, O'Connell JR, Stine OC, Gallagher M, Giles WH, Mitchell BD, Wozniak MA, Stern BJ, Sorkin JD, McArdie PF, Naj AC, Xu Q, Gibbons GH, Kittner SJ. Phosphodiesterase 4D polymorphisms and the risk of cerebral infarction in a biracial poulation: the Stroke Prevention in Young Women Study. Hum Mol Genet 15(16)2468-2478. 2006 PubMed ID: 16835261