Publications
Up-to-date list via google scholar.
Loesch, D., Horimoto, A., Sarihan, E. I., Cornejo-Olivas, M., Torres, L., Inca-Martinez, M., Mazzetti, P., Cosentino, C., Dieguez, E., Raggio, V., Lescano, A., Tumas, V., Borges, V., Ferraz, H. B., Rieder, C., Shumacher-Schuh, A., Santos-Lobato, B. L., Velez-Pardo, C., Jimenez-Del-Rio, M., Lopera, F., Chana-Cuevas, P., Fernandez, W., Arboleda, G., Arboleda, H., Arboleda-Bustos, C. E., Yearout, D., Zabetian, C. P., LARGE-PD Consortium., Thornton, T., Mata, I. F*, O’Connor, T. D.*. Parkinson’s Disease polygenic risk prediction and haplotype analysis in a South American cohort. (in prep.)
Loesch, D., Horimoto, A., Sarihan, E. I., Cornejo-Olivas, M., Torres, L., Inca-Martinez, M., Mazzetti, P., Cosentino, C., Dieguez, E., Raggio, V., Lescano, A., Tumas, V., Borges, V., Ferraz, H. B., Rieder, C., Shumacher-Schuh, A., Santos-Lobato, B. L., Velez-Pardo, C., Jimenez-Del-Rio, M., Lopera, F., Chana-Cuevas, P., Fernandez, W., Arboleda, G., Arboleda, H., Arboleda-Bustos, C. E., Yearout, D., Zabetian, C. P., LARGE-PD Consortium., Thornton, T., O’Connor, T. D., Mata, I. F*. Characterizing the genetic architecture of Parkinson’s Disease in Latinos. (in prep.)
Bateman, N. W., Maxwell, G. L., Tarney, C., Zhao, M., Wang, G., Conrads, K., Litzi, T., Hood, B., Soltis, A., Wilkerson, M., Dalgard, C., Segars, J., Driggers, P., Risinger, J. R., Shriver, C. D., Darcy, K., Casablanca, Y., Conrads, T. P., O’Connor, T. D. Proteogenomic peptide variants that inform European, African, and Asian ancestry. (in prep.)
Yang, C., Reynolds, L. M., O’Connor, T. D., Wood, A. C., Seeds, M., Chen, Y-D. I., Steffen, L. M., Tsai, M. Y., Ruczinski, I., Mathias, R. A., Lemaitre, R. N., Rich, S. S., Chilton, F. H., Manichaikul. Ancestral variation in the levels and genetics of n-3 and n-6 polyunsaturated fatty acids in Hispanics: the Multi-Ethnic Study of Atherosclerosis (under review)
Sarihan, E. I., Pérez-Palma, E., Niestroj, L.-M., Loesch, D., Inca-Martinez, M., Horimoto, A. R. V. R., Cornejo-Olivas, M., Torres, L., Mazzetti, P., Cosentino, C., Sarapura-Castro, E., Rivera-Valdivia, A., Dieguez, E., Raggio, V., Lescano, A., Tumas, V., Borges, V., Ferraz, H.B., Rieder, C. R., Schumacher-Schuh, A., Santos-Lobato, B. L., Velez-Pardo, C., Jimenez-Del-Rio, M., Lopera, F., Moreno, S., Chana-Cuevas, P., Fernandez, W., Arboleda, G., Arboleda, H., Arboleda-Bustos, C. E., Yearout, D., Zabetian, C. P., LARGE-PD Consortium, Thornton, T. A., O’Connor, T. D., Lal, D., Mata, I. F. Genome-wide Analysis of Copy Number Variation in Latin American Parkinson’s Disease Patients. (under review)
https://www.medrxiv.org/content/10.1101/2020.05.29.20100859v2
Shetty, A. C., NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Population Genetics Working Group, O’Connell, J., Mitchell, B., O’Connor, T. D. Rare variant enriched identity-by-descent (IBD) enables the detection of distant relatedness and older divergence between populations. (under review)
https://www.biorxiv.org/content/10.1101/2020.05.05.079541v1
Borda, V., Alvim, I., Aquino, M. M., Silva, C., Soares-Souza, G. B., Leal, T. P., Scliar, M. O., Zamudio, R., Zolini, C., Padilla, C., Cáceres, O., Levano, K., Sanchez, C., Trujillo, O., Flores-Villanueva, P., Dean, M., Fuselli, S., Machado, M., Romero, P. E., Tassi, F., Yeager, M., O'Connor, T. D., Gilman, R. H., Tarazona-Santos, E., Guio, H. The genetic structure and adaptation of Andean highlanders and Amazonian dwellers is influenced by the interplay between geography and culture. (under review)
https://www.biorxiv.org/content/10.1101/2020.01.30.916270v1
Seplyarskiy, V. B., Soldatov, R. A., McGinty, R. J., Goldmann, J. M., Hernandez, R., Barnes, K., Correa, A., Burchard, E. G., Ellinor, P. T., McGarvey, S. T., Mitchell, B. D., Ramachandran, V. S., Redline, S., Silverman, E., Weiss, S. T., Arnett. D. K., Blangero, J., Boerwinkle, E., He, J., Montgomery, C., Rao, D. C., Rotter, J. I., Brody, J. A., Chen, Y.-D. I., de las Fuentes, L., Hwu, C.-M., Rich, S. S., Manichaikul, A. W., Mychaleckyj, J. C., Palmer, N. D., Smith, J. A., Kardia, S. L. R., Peyser, P. A.,Bielak, L. F., O’Connor, T. D., Emery, L. S., NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Population Genetics Working Group, Gilissen, C., Wong, W. S. W., Kharchenko, P. V., Sunyaev, S. Population sequencing data reveal a compendium of mutational processes in human germline. (under review)
https://www.biorxiv.org/content/10.1101/2020.01.10.893024v1
Scliar, M. O., Sant Anna, H. P., Santolalla, M. L., Leal, T. P., Araújo, N. M., Alvim, I., Borda, V., Magalhães, W. C. S., Gouveia, M. H., Lyra, R., Machado, M., Michelin, L., Rodrigues, M. R., Araújo, G. S., Kehdy, F. S. G., Zolini, C., Peixoto, S. V., Luizon, M., Lobo, F. P., Naslavsky, M. S., Yamamoto, G. L., Duarte, Y. A. O., Hansen, M. E. B., Norris, S. A., Gilman, R. H., Guio, H., Hsing, A. W., Mbulaiteye, S. M., Mensah, J., Dutil, J., Yeager, M., Yeboah, E., Tishkoff, S. A., Choudhury, A., Ramsay, M., Passos-Bueno, M. R., Zatz, M., O’Connor, T. D., Pereira, A. C., Barreto, M. L., Lima-Costa, M. F., Horta, B. L., Tarazona-Santos E. Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass- and fat mass-indexes. (under review)
https://www.biorxiv.org/content/10.1101/827311v1
Taliun, D.*, Harris, D. N.*, Kessler, M. D.*, Carlson, J.*, Szpiech, Z. A.*, Torres, R.*, Gagliano Taliun, S. A.*, Corvelo, A.*, Gogarten, S. M., Kang, H. Min, Pitsillides, A. N., LeFaive, J., Lee, S.-B., Tian, X., Browning, B. L., Das, S., Clarke, W. E., Emde, A.-Katrin, Loesch, D. P., Shetty, A. C., Blackwell, T. W., Wong, Q., Aguet, F.çois, Albert, C., Alonso, A., Ardlie, K. G., Aslibekyan, S., Auer, P. L., Barnard, J., Barr, R. Graham, Becker, L. C., Beer, R. L., Benjamin, E. J., Bielak, L. F., Blangero, J., Boehnke, M., Bowden, D. W., Brody, J. A., Burchard, E. G., Cade, B. E., Casella, J. F., Chalazan, B., Chen, Y.-D. I., Cho, M., Choi, S. Hoan, Chung, M. K., Clish, C. B., Correa, A., Curran, J. E., Darbar, D., Daya, M., Andrade, M. de, DeMeo, D. L., Dutcher, S., Ellinor, P. T., Emery, L. S., Forer, L., Fornage, M., Franceschini, N., Fuchsberger, C., Fullerton, S. M., Germer, S., Gottlieb, D. J., Guo, X., Hall, M. E., He, J., Heard-Costa, N. L., Heckbert, S. R., Irvin, M. R., Johnson, A. D., Kardia, S. L.R., Kelly, T., Kelly, S., Kiel, D. P., Klemmer, R., Kooperberg, C., Köttgen, A., Lange, L. A., Lasky-Su, J., Levy, D., Lin, X., Lin, K.-Han, Liu, C., Lori, G., Lubitz, S. A., Lunetta, K. L., Mak, A. C.Y., Manichaikul, A., Manning, A. K., Mathias, R. A., McGarvey, S. T., Meigs, J. B., Mikulla, J. L., Minear, M. A., Mitchell, B., Montasser, M. E., Montgomery, C., Morrison, A. C., Murabito, J. M., Natarajan, P., Nelson, S. C., North, K. E., O'Connell, J. R., Palmer, N. D., Pankratz, N., Peloso, G. M., Peyser, P. A., Psaty, B. M., Rao, D.C., Redline, S., Reiner, A. P., Roden, D., Rotter, J. I., Ruczinski, I., Sarnowski, C.é, Schoenherr, S., Seo, J.-Sun, Seshadri, S., Shoemaker, M. Benjamin, Smith, A. V., Smith, N. L., Smith, J. A., Sotoodehnia, N., Stilp, A. M., Tang, W., Taylor, K. D., Thornton, T. A., Tracy, R. P., Vasan, R. S., Viaud-Martinez, K., Vrieze, S., Weeks, D. E, Weir, B. S., Weiss, S. T., Weng, L. Chen, Willer, C. J., Zhao, X., Arnett, D. K., Ashley-Koch, A. E., Barnes, K. C., Boerwinkle, E., Gabriel, S., Gibbs, R., Rice, K. M., Rich, S. S., Silverman, E., Qasba, P., Gan, W., Trans-Omics for Precision Medicine (TOPMed) Program, TOPMed Population Genetics Working Group, Papanicolaou, G. J., Nickerson, D. A., Browning, S. R., Zody, M. C., Zöllner, S., Wilson, J. G., Cupples, L. A., Laurie, C. C.*, Jaquish, C. E.*, Hernandez, R. D.*, O'Connor, T. D.*, Abecasis, G. R.* Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. (under review).
https://www.biorxiv.org/content/10.1101/563866v1
Jaworek, T., Ryan, K., Gaynor, B., McArdle, P., Stine, O. C., O’Connor, T. D., Lopez, H., Aparicio, H. J., Gao, Y., Lin, X.,Groves, M. L., Flaherty, M. L.Lui, S.,Yang, Q., Wilson, J., Seshadri, S.,Kittner, S. J., Mitchell, B. D., Xu, H., Cole, J. W. (2020) Exome Array Analysis of Early-Onset Ischemic Stroke. Stroke (in press)
Li, Y., Shetty, A. C., Lon, C., Saunders, D. L., Fukuda, M. M., Hien, T. T., Pukrittayakamee, S., Fairhurst, R. M., Dondorp, A. M., Plowe, C. V., O’Connor, T. D., Takala-Harrison, S., Stewart, K. Detecting geospatial patterns of Plasmodium falciparum parasite migration in Cambodia using a density clustering framework. International Journal of Health Geographics. 19:13.
https://link.springer.com/epdf/10.1186/s12942-020-00207-3
Asgari, S., Luo, Y., Akbari, A., Belbin, G. M., Li, X., Harris, D. N., Selig, M., Bartell, E., Calderon, R., Slowikowski, K., Contreras, C., Yataco, R., Galea, J. T., Jimenez, J., Coit, J. M., Farroñay, C., Nazarian, R. M., O’Connor, T. D., Dietz, H. C., Hirschhorn, J. N., Guio, H., Lecca, L., Kenny, E. E., Freeman, E. E., Murray, M. B., Raychaudhuri, S. (2020) A positively selected FBN1 missense variant reduces height in Peruvian individuals. Nature. 582:234–239.
https://www.nature.com/articles/s41586-020-2302-0
Harris, D. N., Kessler, M. D., Shetty, A. C., Weeks, D. E., Minster, R., Browning, S., Cochrane, E. E., Deka, R., Hawley, N. L., Reupena, M. S., Naseri, T., Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Population Genetics Working Group, McGarvey, S. T., O’Connor, T. D. Evolutionary History of Modern Samoans. PNAS. 117 (17) 9458-9465.
https://www.pnas.org/content/117/17/9458
Kessler, M. D., Loesch, D. P., Perry, J., Heard-Costa, N. L., Cade, B., Wang, H., Daya, M., Ziniti, J., Datta, S., Celedón , J. C., Soto-Quiros, M. E., Avila, L., Weiss, S. T., Barnes, K., Redline, S., Vasan, R. S., Johnson, A. D., Mathias, R. A., Hernandez, R., Wilson, J. G., Nickerson, D. A., Abecasis, G., Browning, S., Zoellner, S., O’Connell, J., Mitchell, B., TOPMed, Consortium, TOPMed Population Genetics Working Group, O’Connor, T. D. (2020) de novo mutations across 1,465 ancestrally diverse genomes reveal novel mutational insights and reductions in the Amish founder population. PNAS 117 (5) 2560-2569.
https://www.pnas.org/content/117/5/2560
DNM calls data, all other data must be accessed through dbGaP (sorry)
Yuko Ohta, Y., Kasahara, M., O’Connor, T. D., Flajnik, M. F. (2019) Inferring the ‘Primordial Immune Complex’: Emergence of Antigen Receptors, MHC Class I, and CD1. Journal of Immunology. ji1900597.
https://www.jimmunol.org/content/early/2019/09/05/jimmunol.1900597
Shetty, A. C., Jacob, C. G., Huang, F., Li, Y., Agrawal, S., Saunders, D. L., Lon, C., Fukuda, M. M., Ringwald, P., Ashley, E. A., Han, K. T., Hlaing, T. M., Nyunt, M. M., Silva, J. C., Stewart, K. E., Plowe, C. V., O'Connor, T. D.*, Takala-Harrison, S.*, and Artemisinin Resistance Confirmation, Characterization, and Containment (ARC3), Artemisinin Resistance Containment and Elimination (ARCE), Tracking Resistance to Artemisinin Collaboration (TRAC), and MalariaGEN Plasmodium falciparum Community Project. (2019) Genomic structure and diversity of Plasmodium falciparum in Southeast Asia reveal recent parasite migration patterns. Nature Communications. 10:2665.
https://www.nature.com/articles/s41467-019-10121-3
Harris, D. N., Ruczinski, I., Yanek, L. R., Becker, L. C., Becker, D. M., Guio, H., Cui, T., Chilton, F. H., Mathias, R. A., O'Connor, T. D. Evolution of Hominin Polyunsaturated Fatty Acid Metabolism: From Africa to the New World. Genome Biology and Evolution. 11(5):1417-1430.
https://academic.oup.com/gbe/article/11/5/1417/5426762
Kessler, M. D., Bateman, N. W., Conrads, T. P., Maxwell, G. L., Dunning Hotopp, J. C., O’Connor, T. D. (2019) Ancestral characterization of 1018 cancer cell lines highlights disparities, and reveals gene expression and mutational differences. Cancer. 125(12):2076-2088.
https://www.ncbi.nlm.nih.gov/pubmed/30865299
Daya, M., Rafaels, N., Chavan, S., Johnston, H. R., Shetty, A., Gignoux, C. R., Boorgula, M. P., Campbell, M., Maul, P., Maul, T., Vergara, C., Levin, A. M., Wojcik, G., Torgerson, D. G., Ortega, V. E., Doumatey, A., Araujo, M. I., Avila, P. C., Bleecker, E., Bustamante, C., Caraballo, L., Dunston, G. M., Faruque, M. U., Ferguson, T., Figueiredo, C., Ford, J. G., Gourraud, P.-A., Hansel, N. N., Hernandez, R. D., Herrera-Paz, E. F., Kenny, E. E., Knight-Madden, J., Kumar, R., Lange, L. A., Lange, E. M., Lizee, A., Mayorga, A., Meyers, D., Nicolae, D. L., O'Connor, T. D., Oliveira, R. R., Olopade, C. O., Olopade, O., Qin, Z. S., Rotimi, C., Watson, H., Wilks, R. J., Williams, K. L., Wilson, J. G., Ober, C., Burchard, E. G., Beaty, T. H., Taub, M. A., Ruczinski, I., Mathias, R. A., Barnes, K. C. (2019) Genome-wide association study of asthma in individuals of African ancestry reveals novel asthma susceptibility loci. Nature Communications. 10(1):880.
https://www.ncbi.nlm.nih.gov/pubmed/30787307
Kessler, M. D., Pawar, N. R., Martin, S. S., Antalis, T. M., O’Connor, T. D. (2018). Improving Cancer Detection and Treatment with Liquid Biopsies and ptDNA. Trends in Cancer. 4(9):643-654.
https://www.sciencedirect.com/science/article/pii/S2405803318301572
O’Connor, T. D. (2018) Native American genomic diversity through ancient DNA. Cell. 175(5):1173-1174.
https://www.cell.com/cell/fulltext/S0092-8674(18)31457-0
Harris, D. N., Song, W., Shetty, A. C., Levano, K. S., Cáceres, O., Padilla, C., Borda, V., Tarazona, D., Trujillo, O., Sanchez, C., Kessler, M. D., Galarza, M., Capristano, S., Montejo, H., Flores-Villanueva, P. O., Tarazona-Santos, E., O'Connor, T. D.*, Guio, H.* (2018) Evolutionary genomic dynamics of Peruvians before, during, and after the Inca Empire. Proceedings of the National Academy of Science USA. 115(28):E6526-E6535.
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/29946025/
Kessler M. D, O’Connor T. D. (2017) Accurate and equitable medical genomic analysis requires an understanding of demography and its influence on sample size and ratio. Genome Biology. 18(1):42.
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/28241850/
Riazuddin, S., Hussain, M., Razzaq, A., Iqbal, Z., Shahzad, M., Polla, D. L., Song, Y., van Beusekom, E., Khan, A. A., Tomas-Roca, L., Rashid, M., Zahoor, M. Y., Wissink-Lindhout, W. M., Basra, M. A. R., Ansar, M., Agha, Z., van Heeswijk, K., Rasheed, F., Van de Vorst, M., Veltman, J. A., Gilissen, C., Akram, J., Kleefstra, T., Assir, M. Z., UK10K, Grozeva, D., Carss, K., Raymond, F. L., O'Connor, T. D., Riazuddin, S. A., Khan, S. N., Ahmed, Z., M., de Brouwer, A. P. M., van Bokhoven, H., Riazuddin, S. (2017). Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Molecular Psychiatry. 22(11), 1604.
https://www.nature.com/articles/mp2016109
Johnston, H. R., Hu, Y. J., Gao, J., O'Connor, T. D., Abecasis, G. R., Wojcik, G. L., Gignoux, C. R., Gourraud, P. A., Lizee, A., Hansen, M., Genuario, R., Bullis, D., Lawley, C., Kenny, E. E., Bustamante, C., Beaty, T. H., Mathias, R. A., Barnes, K. C., Qin, Z. S., CAAPA. (2017) Identifying tagging SNPs for African specific genetic variation from the African Diaspora Genome. Scientific Reports. 7:46398.
https://www.nature.com/articles/srep46398
Shringarpure, S. S., Mathias, R. A., Hernandez, R. D., O'Connor, T. D., Szpiech, Z. A., Torres, R., De La Vega, F. M., Bustamante, C. D., Barnes, K. C., Taub, M. A., CAAPA. (2016) Using genotype array data to compare multi- and single-sample variant calls and improve variant call sets from deep coverage whole-genome sequencing data. Bioinformatics. pii: btw786.
https://www.ncbi.nlm.nih.gov/pubmed/28035032
Bradley, B. J., Snowdon, C. T., McGrew, W. C., Lawler, R. R., Guevara, E. E., McIntosh, A., O’Connor, T. D. (2016) Non-human primates avoid the detrimental effects of prenatal androgen exposure in mixed-sex litters: combined demographic, behavioral, and genetic analyses. American Journal of Primatology. 78(12), 1304-1315.
https://www.ncbi.nlm.nih.gov/pubmed/27434275
Kessler, M. D., Yerges-Armstrong, L., Taub, M. A., Shetty, A. C., Maloney, K., Jeng, L. J. B., Ruczinski, I., Levin, A. M., Williams, L. K., Beaty, T. H., Mathias, R. A., Barnes, K. C., CAAPA, O’Connor, T. D. (2016) Challenges and disparities in the application of personalized genomic medicine to populations with African Ancestry. Nature Communications. 11;7:12521.
https://www.ncbi.nlm.nih.gov/pubmed/27725664
Mathias, R. A., Taub, T. A., Gignoux, C. R., Fu, W., Musharoff, S., O'Connor, T. D., Vergara, C., Torgerson, D. G., Pino-Yanes, M., Shringarpure, S. S., Huang, L., Rafaels, N., Boorgula, M. P., Johnston, H. R., Ortega, V. E., Levin, A. M., Song, W., Torres, R., Padhukasahasram, B., Eng, C., Mejia-Mejia, D.-A., Ferguson, T., Qin, Z. S., Scott, A. F., Yazdanbakhsh, M., Wilson, J. G., Marrugo, J., Lange, L. A., Kumar, R., Avila, P. C., Williams, L. K., Watson, H., Ware, L. B., Olopade, C., Olopade, O., Oliveira, R., Ober, C., Nicolae, D. L., Meyers, D., Mayorga, A., Knight-Madden, J., Hartert, T., Hansel, N. N., Foreman, M. G., Ford, J. G., Faruque, M. U., Dunston, G. M., Caraballo, L., Burchard, E. G., Bleecker, E., Araujo, M. I., Herrera-Paz, E. F., Gietzen, K., Grus, W. E., Bamshad, M., Bustamante, C. D., Kenny, E. E., Hernandez, R. D., Beaty, T. H., Ruczinski, I., Akey, J., CAAPA, Barnes, K. C. (2016) A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome. Nature Communications. 11;7:12522.
https://www.ncbi.nlm.nih.gov/pubmed/27725671
Chibucos, M. C., Soliman, S., Gebremariam, T., Lee, H., Daugherty, S., Orvis, J., Shetty, A. C., Crabtree, J., Hazen, T. H., Etienne, K. A., Kumari, P., O’Connor, T. D., Rasko, D. A., Filler, S. G., Fraser, C. M., Lockhart, S. R., Skory, C. D., Ibrahim A. S., Bruno, V. M. (2016). An integrated genomic and transcriptomic survey of mucormycosis-causing fungi. Nature Communications. 7, 12218.
https://www.nature.com/articles/ncomms12218
O'Connor TD. (2015) AdmixKJump: identifying population structure in recently diverged groups. Source Code in Biology and Medicine. 10(1):2.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4325960/
O'Connor, T. D., Fu, W., Mychaleckyj, J. C., Logsdon, B., Auer, P., Carlson, C. S., Leal, S. M., Smith, J. D., Rieder, M. J., Bamshad, M. J., Nickerson, D. A., Akey, J. M. (2014). Rare variation facilitates inferences of fine-scale population structure in humans. Molecular Biology and Evolution. 32(3), 653-660.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4327153/
O’Connor, T. D., Kiezun, A., NHLBI GO Exome Sequencing Project, ESP Population Genetics and Statistical Analysis Working Group, Rich, S. S., Bamshad, M., Leal, S. M., Akey, J. M. (2013) Fine-scale patterns of population stratification confound rare variant association tests. PLoS One. 8(7):e65834.
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0065834
Prado-Martinez, J., Sudmant, P., Kidd, J. M., Li, H., Kelley, J., Lorente-Galdos, B., Veeramah, K., Woerner, A., O’Connor, T. D., Sanpere, G., Cagan, A., Theunert, C., Casals, F., Laayouni, H., Munch, K., Hobolth, A., Halager, A. E., Malig, M., Gonzalez, J., Hernando, I., Pruefer, K., Pybus, M., Lachmann, M., Alkan, C., Twigg, D., Petit, N., Stevison, L., Baker, C., Hormozdiari, F., Wilson, M. L., Fernandez-Callejo, M., Dabad, M., Camprubi, C., Carvalho, T., Ruiz-Herrera, A., Vives, L., Mele, M., Johnstone, L., Abello, T., Bontrop, R. E., Pusey, A., Lankester, F., Kiyang, J., Lonsdorf, E., Myers, S., Ventura, M., Gagneux, P., Comas, D., Siegismund, H., Gut, M., Fulton, L., Kondova, I., Tishkoff, S., Mullikin, J. C., Bergl, R., Wilson, R. K., Gut, I. G., Hahn, B. H., Gonder, K. M., Ryder, O., Navarro, A., Akey, J. M., Bertranpetit, J., Reich, D., Mailund, T., Schrierup, M., Hvilsom, C., Andres, A., Wall, J., Bustamante, C. D., Hammer, M., Eichler, E. E., Marques-Bonet, T. (2013) Great ape genome diversity and population history. Nature. 499(7459):471-5.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3822165/
O'Connor, T. D., Mundy, N. I. (2013). Evolutionary modeling of genotype-phenotype associations, and application to primate coding and non-coding mtDNA rate variation. Evolutionary Bioinformatics. 9:EBO-S11600.
http://journals.sagepub.com/doi/abs/10.4137/EBO.S11600
Fu, W., O’Connor, T. D., Jun, G., Kang, H. M., Abecasis, G., Leal, S. M., Gabriel, S., Altshuler, D., Shendure, J, Nickerson, D. A., Bamshad, M. J., Population Genetics Working Group, Broad GO, Seattle GO, NHLBI Exome Sequencing Project, Akey, J. M. (2012) Analysis of 6,515 exomes reveals a very recent origin of most human protein-coding variants. Nature. 493:216-220.
http://www.nature.com/nature/journal/v493/n7431/full/nature11690.html
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