1000 Genomes Project Consortium, Abecasis, Goncalo R, Auton, Adam, Brooks, Lisa D, DePristo, Mark A, Durbin, Richard M, Handsaker, Robert E, Kang, Hyun Min, Marth, Gabor T, McVean, Gil A (November 2012) An integrated map of genetic variation from 1,092 human genomes. Nature, 491 (7422). pp. 56-65. ISSN 0028-0836
Al-Jouie, A., Esfandiari, M., Ramakrishnan, S., Roshan, U. (September 2015) Chi8: a GPU program for detecting significant interacting SNPs with the Chi-square 8-df test. BMC Res Notes, 8. p. 436. ISSN 1756-0500 (Electronic)1756-0500 (Linking)
Belleau, Pascal, Deschênes, Astrid, Chambwe, Nyasha, Tuveson, David A, Krasnitz, Alexander (December 2022) Genetic ancestry inference from cancer-derived molecular data across genomic and transcriptomic platforms. Cancer Research. CAN-22. ISSN 0008-5472
Biederstedt, E., Oliver, J. C., Hansen, N. F., Jajoo, A., Dunn, N., Olson, A., Busby, B., Dilthey, A. T. (September 2018) NovoGraph: Human genome graph construction from multiple long-read de novo assemblies. F1000Res, 7. p. 1391. ISSN 2046-1402
Boyko, A. R., Quignon, P., Li, L., Schoenebeck, J. J., Degenhardt, J. D., Lohmueller, K. E., Zhao, K., Brisbin, A., Parker, H. G., vonHoldt, B. M., Cargill, M., Auton, A., Reynolds, A., Elkahloun, A. G., Castelhano, M., Mosher, D. S., Sutter, N. B., Johnson, G. S., Novembre, J., Hubisz, M. J., Siepel, A., Wayne, R. K., Bustamante, C. D., Ostrander, E. A. (2010) A simple genetic architecture underlies morphological variation in dogs. PLoS Biology, 8 (8). e1000451. ISSN 1544-9173
Breuss, M. W., Antaki, D., George, R. D., Kleiber, M., James, K. N., Ball, L. L., Hong, O., Mitra, I., Yang, X., Wirth, S. A., Gu, J., Garcia, C. A. B., Gujral, M., Brandler, W. M., Musaev, D., Nguyen, A., McEvoy-Venneri, J., Knox, R., Sticca, E., Botello, M. C. C., Uribe Fenner, J., Perez, M. C., Arranz, M., Moffitt, A. B., Wang, Z., Hervas, A., Devinsky, O., Gymrek, M., Sebat, J., Gleeson, J. G. (December 2019) Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Nat Med, 26 (1). pp. 143-150. ISSN 1078-8956
Brown, Anna-Leigh, Wilkins, Oscar G, Keuss, Matthew J, Hill, Sarah E, Zanovello, Matteo, Lee, Weaverly Colleen, Bampton, Alexander, Lee, Flora CY, Masino, Laura, Qi, Yue A, Bryce-Smith, Sam, Gatt, Ariana, Hallegger, Martina, Fagegaltier, Delphine, Phatnani, Hemali, NYGC ALS Consortium, Newcombe, Jia, Gustavsson, Emil K, Seddighi, Sahba, Reyes, Joel F, Coon, Steven L, Ramos, Daniel, Schiavo, Giampietro, Fisher, Elizabeth MC, Raj, Towfique, Secrier, Maria, Lashley, Tammaryn, Ule, Jernej, Buratti, Emanuele, Humphrey, Jack, Ward, Michael E, Fratta, Pietro (February 2022) TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Nature, 603 (7899). pp. 131-137. ISSN 0028-0836
Bukowski, R., Guo, X., Lu, Y., Zou, C., He, B., Rong, Z., Wang, B., Xu, D., Yang, B., Xie, C., Fan, L., Gao, S., Xu, X., Zhang, G., Li, Y., Jiao, Y., Doebley, J. F., Ross-Ibarra, J., Lorant, A., Buffalo, V., Romay, M. C., Buckler, E. S., Ware, D., Lai, J., Sun, Q., Xu, Y. (April 2018) Construction of the third generation Zea mays haplotype map. Gigascience, 7 (4). pp. 1-12. ISSN 2047-217x
Bukowski, R., Guo, X., Lu, Y., Zou, C., He, B., Rong, Z., Wang, B., Xu, D., Yang, B., Xie, C., Fan, L., Gao, S., Xu, X., Zhang, G., Li, Y., Jiao, Y., Doebley, J. F., Ross-Ibarra, J., Lorant, A., Buffalo, V., Romay, M. C., Buckler, E. S., Ware, D., Lai, J., Sun, Q., Xu, Y. (April 2018) Construction of the third-generation Zea mays haplotype map. Gigascience, 7 (4). pp. 1-12. ISSN 2047-217x
Castel, S. E., Cervera, A., Mohammadi, P., Aguet, F., Reverter, F., Wolman, A., Guigo, R., Iossifov, I., Vasileva, A., Lappalainen, T. (August 2018) Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk. Nat Genet, 50 (9). pp. 1327-1334. ISSN 1061-4036
Chin, C. S., Wagner, J., Zeng, Q., Garrison, E., Garg, S., Fungtammasan, A., Rautiainen, M., Aganezov, S., Kirsche, M., Zarate, S., Schatz, M. C., Xiao, C., Rowell, W. J., Markello, C., Farek, J., Sedlazeck, F. J., Bansal, V., Yoo, B., Miller, N., Zhou, X., Carroll, A., Barrio, A. M., Salit, M., Marschall, T., Dilthey, A. T., Zook, J. M. (September 2020) A diploid assembly-based benchmark for variants in the major histocompatibility complex. Nat Commun, 11 (1). p. 4794. ISSN 2041-1723
Derkarabetian, S., Castillo, S., Koo, P. K., Ovchinnikov, S., Hedin, M. (October 2019) A demonstration of unsupervised machine learning in species delimitation. Mol Phylogenet Evol, 139. p. 106562. ISSN 1055-7903
Frazer, K. A., Ballinger, D. G., Cox, D. R., Hinds, D. A., Stuve, L. L., Gibbs, R. A., Belmont, J. W., Boudreau, A., Hardenbol, P., Leal, S. M., Pasternak, S., Wheeler, D. A., Willis, T. D., Yu, F. L., Yang, H. M., Zeng, C. Q., Gao, Y., Hu, H. R., Hu, W. T., Li, C. H., Lin, W., Liu, S. Q., Pan, H., Tang, X. L., Wang, J., Wang, W., Yu, J., Zhang, B., Zhang, Q. R., Zhao, H. B., Zhao, H., Zhou, J., Gabriel, S. B., Barry, R., Blumenstiel, B., Camargo, A., Defelice, M., Faggart, M., Goyette, M., Gupta, S., Moore, J., Nguyen, H., Onofrio, R. C., Parkin, M., Roy, J., Stahl, E., Winchester, E., Ziaugra, L., Altshuler, D., Shen, Y., Yao, Z. J., Huang, W., Chu, X., He, Y. G., Jin, L., Liu, Y. F., Shen, Y. Y., Sun, W. W., Wang, H. F., Wang, Y., Wang, Y., Xiong, X. Y., Xu, L., Waye, M. M. Y., Tsui, S. K. W., Wong, J. T. F., Galver, L. M., Fan, J. B., Gunderson, K., Murray, S. S., Oliphant, A. R., Chee, M. S., Montpetit, A., Chagnon, F., Ferretti, V., Leboeuf, M., Olivier, J. F., Phillips, M. S., Roumy, S., Sallee, C., Verner, A., Hudson, T. J., Kwok, P. Y., Cai, D. M., Koboldt, D. C., Miller, R. D., Pawlikowska, L., Taillon-Miller, P., Xiao, M., Tsui, L. C., Mak, W., Song, Y. Q., Tam, P. K. H., Nakamura, Y., Kawaguchi, T., Kitamoto, T., Morizono, T., Nagashima, A., Ohnishi, Y., Sekine, A. (October 2007) A second generation human haplotype map of over 3.1 million SNPs. Nature, 449 (7164). 851-U3. ISSN 0028-0836
Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F. L., Yang, H. M., Ch'ang, L. Y., Huang, W., Liu, B., Shen, Y., Tam, P. K. H., Tsui, L. C., Waye, M. M. Y., Wong, J. T. F., Zeng, C. Q., Zhang, Q. R., Chee, M. S., Galver, L. M., Kruglyak, S., Murray, S. S., Oliphant, A. R., Montpetit, A., Hudson, T. J., Chagnon, F., Ferretti, V., Leboeuf, M., Phillips, M. S., Verner, A., Kwok, P. Y., Duan, S. H., Lind, D. L., Miller, R. D., Rice, J. P., Saccone, N. L., Taillon-Miller, P., Xiao, M., Nakamura, Y., Sekine, A., Sorimachi, K., Tanaka, T., Tanaka, Y., Tsunoda, T., Yoshino, E., Bentley, D. R., Deloukas, P., Hunt, S., Powell, D., Altshuler, D., Gabriel, S. B., Qiu, R. Z., Ken, A., Dunston, G. M., Kato, K., Niikawa, N., Knoppers, B. M., Foster, M. W., Clayton, E. W., Wang, V. O., Watkin, J., Gibbs, R. A., Belmont, J. W., Sodergren, E., Weinstock, G. M., Wilson, R. K., Fulton, L. L., Rogers, J., Birren, B. W., Han, H., Wang, H. G., Godbout, M., Wallenburg, J. C., L'Archeveque, P., Bellemare, G., Todani, K., Fujita, T., Tanaka, S., Holden, A. L., Lai, E. H., Collins, F. S., Brooks, L. D., McEwen, J. E., Guyer, M. S., Jordan, E., Peterson, J. L., Spiegel, J., Sung, L. M., Zacharia, L. F., Kennedy, K., Dunn, M. G., Seabrook, R., Shillito, M., Skene, B., Stewart, J. G., Valle, D. L., Clayton, E. W., Jorde, L. B., Belmont, J. W., Chakravarti, A., Cho, M. K., Duster, T. (December 2003) The International HapMap Project. Nature, 426 (6968). pp. 789-796. ISSN 0028-0836
Glessner, J. T., Bick, A. G., Ito, K., Homsy, J. G., Rodriguez-Murillo, L., Fromer, M., Mazaika, E., Vardarajan, B., Italia, M., Leipzig, J., DePalma, S. R., Golhar, R., Sanders, S. J., Yamrom, B., Ronemus, M., Iossifov, I., Willsey, A. J., State, M. W., Kaltman, J. R., White, P. S., Shen, Y., Warburton, D., Brueckner, M., Seidman, C., Goldmuntz, E., Gelb, B. D., Lifton, R., Seidman, J., Hakonarson, H., Chung, W. K. (October 2014) Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circulation Research, 115 (10). pp. 884-96. ISSN 0009-7330
Gomez-Romero, L., Palacios-Flores, K., Reyes, J., Garcia, D., Boege, M., Davila, G., Flores, M., Schatz, M. C., Palacios, R. (May 2018) Precise detection of de novo single nucleotide variants in human genomes. Proc Natl Acad Sci U S A, 115 (21). pp. 5516-5521. ISSN 0027-8424
Guha, S., Rees, E., Darvasi, A., Ivanov, D., Ikeda, M., Bergen, S. E., Magnusson, P. K., Cormican, P., Morris, D., Gill, M., Cichon, S., Rosenfeld, J. A., Lee, A., Gregersen, P. K., Kane, J. M., Malhotra, A. K., Rietschel, M., Nothen, M. M., Degenhardt, F., Priebe, L., Breuer, R., Strohmaier, J., Ruderfer, D. M., Moran, J. L., Chambert, K. D., Sanders, A. R., Shi, J. X., Kendler, K., Riley, B., O'Neill, T., Walsh, D., Malhotra, D., Corvin, A., Purcell, S., Sklar, P., Iwata, N., Hultman, C. M., Sullivan, P. F., Sebat, J., McCarthy, S., Gejman, P. V., Levinson, D. F., Owen, M. J., O'Donovan, M. C., Lencz, T., Kirov, G. (2013) Implication of a Rare Deletion at Distal 16p11.2 in Schizophrenia. Jama Psychiatry, 70 (3). pp. 253-260. ISSN 2168-622X
Hu, Ying, Colantonio, Vincent, Müller, Bárbara SF, Leach, Kristen A, Nanni, Adalena, Finegan, Christina, Wang, Bo, Baseggio, Matheus, Newton, Carter J, Juhl, Emily M, Hislop, Lillian, Gonzalez, Juan M, Rios, Esteban F, Hannah, L Curtis, Swarts, Kelly, Gore, Michael A, Hennen-Bierwagen, Tracie A, Myers, Alan M, Settles, A Mark, Tracy, William F, Resende, Marcio FR (February 2021) Genome assembly and population genomic analysis provide insights into the evolution of modern sweet corn. Nature Communications, 12 (1). p. 1227. ISSN 2041-1723
Huang, Yi-Fei, Siepel, Adam (June 2019) Estimation of allele-specific fitness effects across human protein-coding sequences and implications for disease. Genome Research, 29 (8). pp. 1310-1321. ISSN 10889051 (ISSN)
Hufford, Matthew B, Seetharam, Arun S, Woodhouse, Margaret R, Chougule, Kapeel M, Ou, Shujun, Liu, Jianing, Ricci, William A, Guo, Tingting, Olson, Andrew, Qiu, Yinjie, Della Coletta, Rafael, Tittes, Silas, Hudson, Asher I, Marand, Alexandre P, Wei, Sharon, Lu, Zhenyuan, Wang, Bo, Tello-Ruiz, Marcela K, Piri, Rebecca D, Wang, Na, Kim, Dong Won, Zeng, Yibing, O'Connor, Christine H, Li, Xianran, Gilbert, Amanda M, Baggs, Erin, Krasileva, Ksenia V, Portwood, John L, Cannon, Ethalinda KS, Andorf, Carson M, Manchanda, Nancy, Snodgrass, Samantha J, Hufnagel, David E, Jiang, Qiuhan, Pedersen, Sarah, Syring, Michael L, Kudrna, David A, Llaca, Victor, Fengler, Kevin, Schmitz, Robert J, Ross-Ibarra, Jeffrey, Yu, Jianming, Gent, Jonathan I, Hirsch, Candice N, Ware, Doreen, Dawe, R Kelly (August 2021) De novo assembly, annotation, and comparative analysis of 26 diverse maize genomes. Science, 373 (6555). pp. 655-662. ISSN 0036-8075
Hunt, Martin, Letcher, Brice, Malone, Kerri M, Nguyen, Giang, Hall, Michael B, Colquhoun, Rachel M, Lima, Leandro, Schatz, Michael C, Ramakrishnan, Srividya, CRyPTIC consortium, Iqbal, Zamin (July 2022) Minos: variant adjudication and joint genotyping of cohorts of bacterial genomes. Genome Biology, 23 (1). p. 147. ISSN 1474-760X
Jarvis, Erich D, Formenti, Giulio, Rhie, Arang, Guarracino, Andrea, Yang, Chentao, Wood, Jonathan, Tracey, Alan, Thibaud-Nissen, Francoise, Vollger, Mitchell R, Porubsky, David, Cheng, Haoyu, Asri, Mobin, Logsdon, Glennis A, Carnevali, Paolo, Chaisson, Mark JP, Chin, Chen-Shan, Cody, Sarah, Collins, Joanna, Ebert, Peter, Escalona, Merly, Fedrigo, Olivier, Fulton, Robert S, Fulton, Lucinda L, Garg, Shilpa, Gerton, Jennifer L, Ghurye, Jay, Granat, Anastasiya, Green, Richard E, Harvey, William, Hasenfeld, Patrick, Hastie, Alex, Haukness, Marina, Jaeger, Erich B, Jain, Miten, Kirsche, Melanie, Kolmogorov, Mikhail, Korbel, Jan O, Koren, Sergey, Korlach, Jonas, Lee, Joyce, Li, Daofeng, Lindsay, Tina, Lucas, Julian, Luo, Feng, Marschall, Tobias, Mitchell, Matthew W, McDaniel, Jennifer, Nie, Fan, Olsen, Hugh E, Olson, Nathan D, Pesout, Trevor, Potapova, Tamara, Puiu, Daniela, Regier, Allison, Ruan, Jue, Salzberg, Steven L, Sanders, Ashley D, Schatz, Michael C, Schmitt, Anthony, Schneider, Valerie A, Selvaraj, Siddarth, Shafin, Kishwar, Shumate, Alaina, Stitziel, Nathan O, Stober, Catherine, Torrance, James, Wagner, Justin, Wang, Jianxin, Wenger, Aaron, Xiao, Chuanle, Zimin, Aleksey V, Zhang, Guojie, Wang, Ting, Li, Heng, Garrison, Erik, Haussler, David, Hall, Ira, Zook, Justin M, Eichler, Evan E, Phillippy, Adam M, Paten, Benedict, Howe, Kerstin, Miga, Karen H, Human Pangenome Reference Consortium (November 2022) Semi-automated assembly of high-quality diploid human reference genomes. Nature, 611 (7936). pp. 519-531. ISSN 0028-0836
Jia, Xiaoming, Goes, Fernando S, Locke, Adam E, Palmer, Duncan, Wang, Weiqing, Cohen-Woods, Sarah, Genovese, Giulio, Jackson, Anne U, Jiang, Chen, Kvale, Mark, Mullins, Niamh, Nguyen, Hoang, Pirooznia, Mehdi, Rivera, Margarita, Ruderfer, Douglas M, Shen, Ling, Thai, Khanh, Zawistowski, Matthew, Zhuang, Yongwen, Abecasis, Gonçalo, Akil, Huda, Bergen, Sarah, Burmeister, Margit, Chapman, Sinéad, DelaBastide, Melissa, Juréus, Anders, Kang, Hyun Min, Kwok, Pui-Yan, Li, Jun Z, Levy, Shawn E, Monson, Eric T, Moran, Jennifer, Sobell, Janet, Watson, Stanley, Willour, Virginia, Zöllner, Sebastian, Adolfsson, Rolf, Blackwood, Douglas, Boehnke, Michael, Breen, Gerome, Corvin, Aiden, Craddock, Nick, DiFlorio, Arianna, Hultman, Christina M, Landen, Mikael, Lewis, Cathryn, McCarroll, Steven A, Richard McCombie, W, McGuffin, Peter, McIntosh, Andrew, McQuillin, Andrew, Morris, Derek, Myers, Richard M, O'Donovan, Michael, Ophoff, Roel, Boks, Marco, Kahn, Rene, Ouwehand, Willem, Owen, Michael, Pato, Carlos, Pato, Michele, Posthuma, Danielle, Potash, James B, Reif, Andreas, Sklar, Pamela, Smoller, Jordan, Sullivan, Patrick F, Vincent, John, Walters, James, Neale, Benjamin, Purcell, Shaun, Risch, Neil, Schaefer, Catherine, Stahl, Eli A, Zandi, Peter P, Scott, Laura J (January 2021) Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder. Molecular Psychiatry. ISSN 1359-4184
Kelley, D. R., Schatz, M. C., Salzberg, S. L. (November 2010) Quake: Quality-aware detection and correction of sequencing errors. Genome Biology, 11 (11). ISSN 1474-7596
Kircher, T., Thienel, R., Wagner, M., Reske, M., Habel, U., Kellermann, T., Frommann, I., Schwab, S., Wolwer, W., von Wilmsdorf, M., Braus, D. F., Schmitt, A., Rapp, A., Stocker, T., Shah, N. J., Henn, F. A., Sauer, H., Gaebel, W., Maier, W., Schneider, F. (March 2009) Neuregulin 1 ICE-single nucleotide polymorphism in first episode schizophrenia correlates with cerebral activation in fronto-temporal areas. European Archives of Psychiatry and Clinical Neuroscience, 259 (2). pp. 72-9. ISSN 0940-1334 (Print)0940-1334 (Linking)
Kleyner, R., Malcolmson, J., Tegay, D., Ward, K., Maughan, A., Maughan, G., Nelson, L., Wang, K., Robison, R., Lyon, G. J. (November 2016) KBG syndrome involving a single-nucleotide duplication in ANKRD11. Cold Spring Harb Mol Case Stud, 2 (6). a001131. ISSN 2373-2873 (Linking)
Kovaka, Sam, Fan, Yunfan, Ni, Bohan, Timp, Winston, Schatz, Michael C (April 2021) Targeted nanopore sequencing by real-time mapping of raw electrical signal with UNCALLED. Nature Biotechnology, 39 (4). pp. 431-441. ISSN 1087-0156
Lee, Bernett, Cyrill, Samantha Leeanne, Lee, Wendy, Melchiotti, Rossella, Andiappan, Anand Kumar, Poidinger, Michael, Rötzschke, Olaf (August 2022) Analysis of archaic human haplotypes suggests that 5hmC acts as an epigenetic guide for NCO recombination. BMC Biology, 20 (1). p. 173. ISSN 1741-7007
Li, X. R., Zhu, C. S., Yeh, C. T., Wu, W., Takacs, E. M., Petsch, K. A., Tian, F., Bai, G. H., Buckler, E. S., Muehlbauer, G. J., Timmermans, M. C. P., Scanlon, M. J., Schnable, P. S., Yu, J. M. (December 2012) Genic and nongenic contributions to natural variation of quantitative traits in maize. Genome Research, 22 (12). pp. 2436-2444. ISSN 1088-9051
Li, Siran, Park, Sarah, Ye, Catherine, Danyko, Cassidy, Wroten, Matthew, Andrews, Peter, Wigler, Michael, Levy, Dan (July 2022) Targeted de novo phasing and long-range assembly by template mutagenesis. Nucleic Acids Research. ISSN 0305-1048
Lin, H., Zhang, Z., Zhang, M. Q., Ma, B., Li, M. (November 2008) ZOOM! Zillions of oligos mapped. Bioinformatics, 24 (21). pp. 2431-7.
Maihofer, Adam X, Engchuan, Worrawat, Huguet, Guillaume, Klein, Marieke, MacDonald, Jeffrey R, Shanta, Omar, Thiruvahindrapuram, Bhooma, Jean-Louis, Martineau, Saci, Zohra, Jacquemont, Sebastien, Scherer, Stephen W, Ketema, Elizabeth, Aiello, Allison E, Amstadter, Ananda B, Avdibegović, Esmina, Babic, Dragan, Baker, Dewleen G, Bisson, Jonathan I, Boks, Marco P, Bolger, Elizabeth A, Bryant, Richard A, Bustamante, Angela C, Caldas-de-Almeida, Jose Miguel, Cardoso, Graça, Deckert, Jurgen, Delahanty, Douglas L, Domschke, Katharina, Dunlop, Boadie W, Dzubur-Kulenovic, Alma, Evans, Alexandra, Feeny, Norah C, Franz, Carol E, Gautam, Aarti, Geuze, Elbert, Goci, Aferdita, Hammamieh, Rasha, Jakovljevic, Miro, Jett, Marti, Jones, Ian, Kaufman, Milissa L, Kessler, Ronald C, King, Anthony P, Kremen, William S, Lawford, Bruce R, Lebois, Lauren AM, Lewis, Catrin, Liberzon, Israel, Linnstaedt, Sarah D, Lugonja, Bozo, Luykx, Jurjen J, Lyons, Michael J, Mavissakalian, Matig R, McLaughlin, Katie A, McLean, Samuel A, Mehta, Divya, Mellor, Rebecca, Morris, Charles Phillip, Muhie, Seid, Orcutt, Holly K, Peverill, Matthew, Ratanatharathorn, Andrew, Risbrough, Victoria B, Rizzo, Albert, Roberts, Andrea L, Rothbaum, Alex O, Rothbaum, Barbara O, Roy-Byrne, Peter, Ruggiero, Kenneth J, Rutten, Bart PF, Schijven, Dick, Seng, Julia S, Sheerin, Christina M, Sorenson, Michael A, Teicher, Martin H, Uddin, Monica, Ursano, Robert J, Vinkers, Christiaan H, Voisey, Joanne, Weber, Heike, Winternitz, Sherry, Xavier, Miguel, Yang, Ruoting, McD Young, Ross, Zoellner, Lori A, Psychiatric Genomics Consortium PTSD Working Group, Psychiatric Genomics Consortium CNV Working Group, Salem, Rany M, Shaffer, Richard A, Wu, Tianying, Ressler, Kerry J, Stein, Murray B, Koenen, Karestan C, Sebat, Jonathan, Nievergelt, Caroline M (September 2022) Rare copy number variation in posttraumatic stress disorder. Molecular Psychiatry. ISSN 1359-4184
Martin, P. M., Stanley, R. E., Ross, A. P., Freitas, A. E., Moyer, C. E., Brumback, A. C., Iafrati, J., Stapornwongkul, K. S., Dominguez, S., Kivimae, S., Mulligan, K. A., Pirooznia, M., McCombie, W. R., Potash, J. B., Zandi, P. P., Purcell, S. M., Sanders, S. J., Zuo, Y., Sohal, V. S., Cheyette, B. N. (February 2018) DIXDC1 contributes to psychiatric susceptibility by regulating dendritic spine and glutamatergic synapse density via GSK3 and Wnt/beta-catenin signaling. Mol Psychiatry, 23 (2). pp. 467-475. ISSN 1476-5578 (Electronic)1359-4184 (Linking)
Matise, T. C., Sachidanandam, R., Clark, A., Kruglyak, L., Wijsman, E., Chui, B., Cohen, P., de Toma, C., Ehm, M., Glanowski, S., He, C., Heil, J., McMullen, I., Stein, L., Wagner, M., Winick, J., Winn-Deen, E. S., Cann, H. M., Lai, E., Holden, H. L. (October 2002) A high-resolution human SNP linkage map. American Journal of Human Genetics, 71 (4). p. 206. ISSN 0002-9297
Matise, T. C., Sachidanandam, R., Clark, A. G., Kruglyak, L., Wijsman, E., Kakol, J., Buyske, S., Chui, B., Cohen, P., de Toma, C., Ehm, M., Glanowski, S., He, C. S., Heil, J., Markianos, K., McMullen, I., Pericak-Vance, M. A., Silbergleit, A., Stein, L., Wagner, M., Wilson, A. F., Winick, J. D., Winn-Deen, E. S., Yamashiro, C. T., Cann, H. M., Lai, E., Holden, A. L. (August 2003) A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set. American Journal of Human Genetics, 73 (2). pp. 271-284. ISSN 0002-9297
McCombie, W. R., Martin-Gallardo, A., Gocayne, J. D., FitzGerald, M., Dubnick, M., Kelley, J. M., Castilla, L., Liu, L. I., Wallace, S., Trapp, S., Tagle, D., Whaley, W. L., Cheng, S., Gusella, J., Frischauf, A. M., Poustka, A., Lehrach, H., Collins, F. S., Kerlavage, A. R., Fields, C., Venter, J. C. (1992) Expressed genes, Alu repeats and polymorphisms in cosmids sequenced from chromosome 4p16.3. Nature Genetics, 1 (5). pp. 348-353. ISSN 10614036 (ISSN)
Mehta, M. S., Vazquez, A., Kulkarni, D. A., Kerrigan, J. E., Atwal, G. S., Metsugi, S., Toppmeyer, D. L., Levine, A. J., Hirshfield, K. M. (February 2011) Polymorphic variants in TSC1 and TSC2 and their association with breast cancer phenotypes. Breast Cancer Research and Treatment, 125 (3). pp. 861-868.
Nielsen, K. B., Sorensen, S., Cartegni, L., Corydon, T. J., Doktor, T. K., Schroeder, L. D., Reinert, L. S., Elpeleg, O., Krainer, A. R., Gregersen, N., Kjems, J., Andresen, B. S. (March 2007) Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: A synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer. American Journal of Human Genetics, 80 (3). pp. 416-432. ISSN 0002-9297
Noutsos, C., Borevitz, J. O., Hodges, S. A. (November 2014) Gene flow between nascent species: geographic, genotypic and phenotypic differentiation within and between Aquilegia formosa and A. pubescens. Molecular Ecology, 23 (22). pp. 5589-98. ISSN 0962-1083
Omoumi, Ardeshir, Wang, Zihua, Yeow, Vincent, Wu-Chou, Yah-Huei, Chen, Philip K, Ruczinski, Ingo, Cheng, Joanne, Cheah, Felicia SH, Lee, Caroline G, Beaty, Terri H, Chong, Samuel S (December 2013) Fetal polymorphisms at the ABCB1-transporter gene locus are associated with susceptibility to non-syndromic oral cleft malformations. European Journal of Human Genetics, 21 (12). pp. 1436-1441. ISSN 1018-4813
Pang, Grace SY, Wang, Jingbo, Wang, Zihua, Goh, Cynthia, Lee, Caroline GL (July 2009) The G allele of SNP E1/A118G at the µ-opioid receptor gene locus shows genomic evidence of recent positive selection. Pharmacogenomics, 10 (7). pp. 1101-1109. ISSN 1462-2416
Phillips, M. S., Lawrence, R., Sachidanandam, R., Morris, A. P., Balding, D. J., Donaldson, M. A., Studebaker, J. F., Ankener, W. M., Alfisi, S. V., Kuo, F. S., Camisa, A. L., Pazorov, V., Scott, K. E., Carey, B. J., Faith, J., Katari, G., Bhatti, H. A., Cyr, J. M., Derohannessian, V., Elosua, C., Forman, A. M., Grecco, N. M., Hock, C. R., Kuebler, J. M., Lathrop, J. A., Mockler, M. A., Nachtman, E. P., Restine, S. L., Varde, S. A., Hozza, M. J., Gelfand, C. A., Broxholme, J., Abecasis, G. R., Boyce-Jacino, M. T., Cardon, L. R. (March 2003) Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots. Nature Genetics, 33 (3). pp. 382-387. ISSN 1061-4036
Prokopenko, I., Zeggini, E., Hanson, R. L., Mitchell, B. D., Rayner, N. W., Akan, P., Baier, L., Das, S. K., Elliott, K. S., Fu, M., Frayling, T. M., Groves, C. J., Gwilliam, R., Scott, L. J., Voight, B. F., Hattersley, A. T., Hu, C., Morris, A. D., Ng, M., Palmer, C. N. A., Tello-Ruiz, M., Vaxillaire, M., Wang, C. R., Stein, L. D., Chan, J., Jia, W. P., Froguel, P., Elbein, S. C., Deloukas, P., Bogardus, C., Shuldiner, A. R., McCarthy, M. I. (July 2009) Linkage Disequilibrium Mapping of the Replicated Type 2 Diabetes Linkage Signal on Chromosome 1q. Diabetes, 58 (7). pp. 1704-1709. ISSN 0012-1797
Sachidanandam, R., Weissman, D., Schmidt, S. C., Kakol, J. M., Stein, L. D., Marth, G., Sherry, S., Mullikin, J. C., Mortimore, B. J., Willey, D. L., Hunt, S. E., Cole, C. G., Coggill, P. C., Rice, C. M., Ning, Z., Rogers, J., Bentley, D. R., Kwok, P. Y., Mardis, E. R., Yeh, R. T., Schultz, B., Cook, L., Davenport, R., Dante, M., Fulton, L., Hillier, L., Waterston, R. H., McPherson, J. D., Gilman, B., Schaffner, S., Van Etten, W. J., Reich, D., Higgins, J., Daly, M. J., Blumenstiel, B., Baldwin, J., Stange-Thomann, N., Zody, M. C., Linton, L., Lander, E. S., Altshuler, D. (February 2001) A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature, 409 (6822). pp. 928-33.
Sun, Yonghao, Dong, Liang, Zhang, Ying, Lin, Da, Xu, Weize, Ke, Changxiong, Han, Linqian, Deng, Lulu, Li, Guoliang, Jackson, David, Li, Xingwang, Yang, Fang (June 2020) 3D genome architecture coordinates trans and cis regulation of differentially expressed ear and tassel genes in maize. Genome Biology, 21 (1). p. 143. ISSN 1474-760X
Sánchez-Rivera, Francisco J, Diaz, Bianca J, Kastenhuber, Edward R, Schmidt, Henri, Katti, Alyna, Kennedy, Margaret, Tem, Vincent, Ho, Yu-Jui, Leibold, Josef, Paffenholz, Stella V, Barriga, Francisco M, Chu, Kevan, Goswami, Sukanya, Wuest, Alexandra N, Simon, Janelle M, Tsanov, Kaloyan M, Chakravarty, Debyani, Zhang, Hongxin, Leslie, Christina S, Lowe, Scott W, Dow, Lukas E (February 2022) Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants. Nature Biotechnology. ISSN 1087-0156
Thome, J., Retz, W., Baader, M., Pesold, B., Hu, M., Cowen, M., Durany, N., Adler, G., Henn, F. A., Rosler, M. (2001) Association analysis of HTR6 and HTR2A polymorphisms in sporadic Alzheimer's disease. J Neural Transm, 108 (10). pp. 1175-80. ISSN 0300-9564 (Print)0300-9564 (Linking)
Thomson, P. A., Parla, J. S., McRae, A. F., Kramer, M., Ramakrishnan, K., Yao, J., Soares, D. C., McCarthy, S., Morris, S. W., Cardone, L., Cass, S., Ghiban, E., Hennah, W., Evans, K. L., Rebolini, D., Millar, J. K., Harris, S. E., Starr, J. M., MacIntyre, D. J., McIntosh, A. M., Watson, J. D., Deary, I. J., Visscher, P. M., Blackwood, D. H., McCombie, W. R., Porteous, D. J. (June 2014) 708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: Analysis for association with psychiatric disorder and cognitive traits. Molecular Psychiatry, 19 (6). pp. 668-675. ISSN 14765578
Thorisson, G. A., Stein, L. D. (January 2003) The SNP Consortium website: past, present and future. Nucleic Acids Research, 31 (1). pp. 124-127. ISSN 0305-1048
Venkatasubramani, J.P., Subramanyam, P., Pal, R., Reddy, B.K., Srinivasan, D.J., Chattarji, S., Iossifov, I., Klann, E., Bhattacharya, S. (March 2020) N-terminal Variant Asp14Asn of the Human p70 S6 Kinase 1 Enhances Translational Signaling Causing Different Effects in Developing and Mature Neuronal Cells. Neurobiology of Learning and Memory, 171 (107203). ISSN 1074-7427
Vranken, S, Scheben, A, Batley, J, Wernberg, T, Coleman, MA (October 2022) Genomic consequences and selection efficacy in sympatric sexual versus asexual kelps. Frontiers in Marine Science, 9. ISSN 2296-7745
Wang, D. G., Fan, J. B., Siao, C. J., Berno, A., Young, P., Sapolsky, R., Ghandour, G., Perkins, N., Winchester, E., Spencer, J., Kruglyak, L., Stein, L., Hsie, L., Topaloglou, T., Hubbell, E., Robinson, E., Mittmann, M., Morris, M. S., Shen, N. P., Kilburn, D., Rioux, J., Nusbaum, C., Rozen, S., Hudson, T. J., Lipshutz, R., Chee, M., Lander, E. S. (May 1998) Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science, 280 (5366). pp. 1077-1082. ISSN 0036-8075
Wang, B., Tseng, E., Baybayan, P., Eng, K., Regulski, M., Jiao, Y., Wang, L., Olson, A., Chougule, K., Buren, P. V., Ware, D. (February 2020) Variant phasing and haplotypic expression from long-read sequencing in maize. Commun Biol, 3 (1). p. 78. ISSN 2399-3642 (Public Dataset)
Wang, Kejun, Hu, Haifei, Tian, Yadong, Li, Jingyi, Scheben, Armin, Zhang, Chenxi, Li, Yiyi, Wu, Junfeng, Yang, Lan, Fan, Xuewei, Sun, Guirong, Li, Donghua, Zhang, Yanhua, Han, Ruili, Jiang, Ruirui, Huang, Hetian, Yan, Fengbin, Wang, Yanbin, Li, Zhuanjian, Li, Guoxi, Liu, Xiaojun, Li, Wenting, Edwards, David, Kang, Xiangtao (July 2021) The chicken pan-genome reveals gene content variation and a promoter region deletion in IGF2BP1 affecting body size. Molecular Biology and Evolution. ISSN 0737-4038
Wang, Z, Wang, J, Chong, S, Lee, C (March 2009) Mining Potential Functionally Significant Polymorphisms at the ATP-Binding- Cassette Transporter Genes. Current Pharmacogenomics and Personalized Medicine: the international journal for expert reviews in pharmacogenomics, 7 (1). pp. 40-58. ISSN 1875-6921
Wang, Zihua, Sew, Pui-Hoon, Chong, Samuel S, Lee, Caroline GL (December 2009) Realtime exonuclease-mediated allelic discrimination (READ): a simple homogeneous genotyping assay for SNPs at the ABC gene loci. Pharmacogenomics, 10 (12). pp. 1995-2001. ISSN 1462-2416
Wang, Zihua, Wang, Baoshuang, Tang, Kun, Lee, Edmund JD, Chong, Samuel S, Lee, Caroline GL (July 2005) A functional polymorphism within the MRP1 gene locus identified through its genomic signature of positive selection. Human Molecular Genetics, 14 (14). pp. 2075-2087. ISSN 0964-6906
Wang, Zihua, Wang, Jingbo, Tantoso, Erwin, Wang, Baoshuang, Tai, Amy YP, Ooi, London LPJ, Chong, Samuel S, Lee, Caroline GL (June 2007) Signatures of recent positive selection at the ATP-binding cassette drug transporter superfamily gene loci. Human Molecular Genetics, 16 (11). pp. 1367-1380. ISSN 0964-6906
Xu, Zhuwei, Green, Brian, Benoit, Nicole, Sobel, Jack D, Schatz, Michael C, Wheelan, Sarah, Cormack, Brendan P (March 2021) Cell wall protein variation, break-induced replication, and subtelomere dynamics in Candida glabrata. Molecular Microbiology. ISSN 0950-382X
Yan, Stephanie M, Sherman, Rachel M, Taylor, Dylan J, Nair, Divya R, Bortvin, Andrew N, Schatz, Michael C, McCoy, Rajiv C (September 2021) Local adaptation and archaic introgression shape global diversity at human structural variant loci. eLife, 10. ISSN 2050-084X
Yang, N., Liu, J., Gao, Q., Gui, S., Chen, L., Yang, L., Huang, J., Deng, T., Luo, J., He, L., Wang, Y., Xu, P., Peng, Y., Shi, Z., Lan, L., Ma, Z., Yang, X., Zhang, Q., Bai, M., Li, S., Li, W., Liu, L., Jackson, D., Yan, J. (June 2019) Genome assembly of a tropical maize inbred line provides insights into structural variation and crop improvement. Nat Genet, 51 (6). pp. 1052-1059. ISSN 1061-4036
Yu, D., Sul, J. H., Tsetsos, F., Nawaz, M. S., Huang, A. Y., Zelaya, I., Illmann, C., Osiecki, L., Darrow, S. M., Hirschtritt, M. E., Greenberg, E., Muller-Vahl, K. R., Stuhrmann, M., Dion, Y., Rouleau, G., Aschauer, H., Stamenkovic, M., Schlogelhofer, M., Sandor, P., Barr, C. L., Grados, M., Singer, H. S., Nothen, M. M., Hebebrand, J., Hinney, A., King, R. A., Fernandez, T. V., Barta, C., Tarnok, Z., Nagy, P., Depienne, C., Worbe, Y., Hartmann, A., Budman, C. L., Rizzo, R., Lyon, G. J., McMahon, W. M., Batterson, J. R., Cath, D. C., Malaty, I. A., Okun, M. S., Berlin, C., Woods, D. W., Lee, P. C., Jankovic, J., Robertson, M. M., Gilbert, D. L., Brown, L. W., Coffey, B. J., Dietrich, A., Hoekstra, P. J., Kuperman, S., Zinner, S. H., Luethvigsson, P., Saemundsen, E., Thorarensen, O., Atzmon, G., Barzilai, N., Wagner, M., Moessner, R., Ophoff, R., Pato, C. N., Pato, M. T., Knowles, J. A., Roffman, J. L., Smoller, J. W., Buckner, R. L., Willsey, A. J., Tischfield, J. A., Heiman, G. A., Stefansson, H., Stefansson, K., Posthuma, D., Cox, N. J., Pauls, D. L., Freimer, N. B., Neale, B. M., Davis, L. K., Paschou, P., Coppola, G., Mathews, C. A., Scharf, J. M. (March 2019) Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies. The American Journal of Psychiatry, 176 (3). pp. 217-227. ISSN 0002-953x
Yuan, Yuxuan, Scheben, Armin, Edwards, David, Chan, Ting-Fung (November 2021) Towards haplotype studies in polyploid plants to assist breeding. Molecular Plant. ISSN 1674-2052
Zhao, W., Canaran, P., Jurkuta, R., Fulton, T., Glaubitz, J., Buckler, E., Doebley, J., Gaut, B., Goodman, M., Holland, J., Kresovich, S., McMullen, M., Stein, L. D., Ware, D. (January 2006) Panzea: a database and resource for molecular and functional diversity in the maize genome. Nucleic Acids Res, 34 (Databa). D752-7. ISSN 1362-4962 (Electronic)
Zhou, Yong, Kathiresan, Nagarajan, Yu, Zhichao, Rivera, Luis F, Yang, Yujian, Thimma, Manjula, Manickam, Keerthana, Chebotarov, Dmytro, Mauleon, Ramil, Chougule, Kapeel, Wei, Sharon, Gao, Tingting, Green, Carl D, Zuccolo, Andrea, Xie, Weibo, Ware, Doreen, Zhang, Jianwei, McNally, Kenneth L, Wing, Rod A (January 2024) A high-performance computational workflow to accelerate GATK SNP detection across a 25-genome dataset. BMC Biology, 22 (1). p. 13. ISSN 1741-7007
Zou, C., Karn, A., Reisch, B., Nguyen, A., Sun, Y., Bao, Y., Campbell, M. S., Church, D., Williams, S., Xu, X., Ledbetter, C. A., Patel, S., Fennell, A., Glaubitz, J. C., Clark, M., Ware, D., Londo, J. P., Sun, Q., Cadle-Davidson, L. (January 2020) Haplotyping the Vitis collinear core genome with rhAmpSeq improves marker transferability in a diverse genus. Nat Commun, 11 (1). p. 413. ISSN 2041-1723 (Public Dataset)
Casey, Will, Mishra, Bud (2003) A Nearly Linear-Time General Algorithm for Genome-Wide Bi-allele Haplotype Phasing. In: High Performance Computing - HiPC 2003. Lecture Notes in Computer Science, 2913 . Springer Berlin Heidelberg, pp. 204-215. ISBN 978-3-540-20626-2
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