Items where Subject is "single nucleotide polymorphism"

Paper

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

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Book Section

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