Items where Subject is "genomes"
- CSHL Subject List (478)
- bioinformatics (478)
- genomics and proteomics (478)
- genetics & nucleic acid processing (478)
- genomes (478)
- comparative genomics (22)
- de novo assembly (12)
- genome annotation (30)
- genome rendering (5)
- personal genomes (33)
- genomes (478)
- personal genomes (33)
- genetics & nucleic acid processing (478)
- genomics and proteomics (478)
- bioinformatics (478)
Paper
Adams, M. D., Kelley, J. M., Gocayne, J. D., Dubnick, M., Polymeropoulos, M. H., Xiao, H., Merril, C. R., Wu, A., Olde, B., Moreno, R. F., Kerlavage, A. R., McCombie, W. R., Venter, J. C. (1991) Complementary DNA sequencing: Expressed sequence tags and human genome project. Science, 252 (5013). pp. 1651-1656. ISSN 00368075 (ISSN)
Aganezov, S., Goodwin, S., Sherman, R. M., Sedlazeck, F. J., Arun, G., Bhatia, S., Lee, I., Kirsche, M., Wappel, R., Kramer, M., Kostroff, K., Spector, D. L., Timp, W., McCombie, W. R., Schatz, M. C. (September 2020) Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing. Genome Res, 30 (9). pp. 1258-1273. ISSN 1088-9051 (Print)1088-9051
Aganezov, Sergey, Yan, Stephanie M, Soto, Daniela C, Kirsche, Melanie, Zarate, Samantha, Avdeyev, Pavel, Taylor, Dylan J, Shafin, Kishwar, Shumate, Alaina, Xiao, Chunlin, Wagner, Justin, McDaniel, Jennifer, Olson, Nathan D, Sauria, Michael EG, Vollger, Mitchell R, Rhie, Arang, Meredith, Melissa, Martin, Skylar, Lee, Joyce, Koren, Sergey, Rosenfeld, Jeffrey A, Paten, Benedict, Layer, Ryan, Chin, Chen-Shan, Sedlazeck, Fritz J, Hansen, Nancy F, Miller, Danny E, Phillippy, Adam M, Miga, Karen H, McCoy, Rajiv C, Dennis, Megan Y, Zook, Justin M, Schatz, Michael C (April 2022) A complete reference genome improves analysis of human genetic variation. Science, 376 (6588). eabl3533. ISSN 0036-8075
Ahmed, Shehab S, Rifat, Zaara T, Lohia, Ruchi, Campbell, Arthur J, Dunker, A Keith, Rahman, M Sohel, Iqbal, Sumaiya (March 2022) Characterization of intrinsically disordered regions in proteins informed by human genetic diversity. PLoS Computational Biology, 18 (3). e1009911. ISSN 1553-734X
Ahn, J., Won, T. W., Zia, A., Reutter, H., Kaplan, D. E., Sparks, R., Gruen, J. R. (November 2001) Peaks of linkage are localized by a BAC/PAC contig of the 6p reading disability locus. Genomics, 78 (1-2). pp. 19-29. ISSN 0888-7543
Akhade, V. S., Arun, G., Donakonda, S., Satyanarayana Rao, M. R. (October 2014) Genome wide chromatin occupancy of mrhl RNA and its role in gene regulation in mouse spermatogonial cells. RNA Biol, 11 (10). pp. 1262-79. ISSN 1547-6286
Alexander, Katherine A, Wang, Xu, Shibata, Maho, Clark, Andrew G, García-García, María J (November 2015) TRIM28 Controls Genomic Imprinting through Distinct Mechanisms during and after Early Genome-wide Reprogramming. Cell Reports, 13 (6). pp. 1194-1205. ISSN 2211-1247
Alonge, M., Wang, X., Benoit, M., Soyk, S., Pereira, L., Zhang, L., Suresh, H., Ramakrishnan, S., Maumus, F., Ciren, D., Levy, Y., Harel, T. H., Shalev-Schlosser, G., Amsellem, Z., Razifard, H., Caicedo, A. L., Tieman, D. M., Klee, H., Kirsche, M., Aganezov, S., Ranallo-Benavidez, T. R., Lemmon, Z. H., Kim, J., Robitaille, G., Kramer, M., Goodwin, S., McCombie, W. R., Hutton, S., Van Eck, J., Gillis, J., Eshed, Y., Sedlazeck, F. J., van der Knaap, E., Schatz, M. C., Lippman, Z. B. (July 2020) Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato. Cell, 182 (1). 145-161.e23. ISSN 0092-8674 (Print)0092-8674
Alonge, Michael, Lebeigle, Ludivine, Kirsche, Melanie, Aganezov, Sergey, Wang, Xingang, Lippman, Zachary, Schatz, Michael, Soyk, Sebastian (November 2021) Automated assembly scaffolding elevates a new tomato system for high-throughput genome editing. bioRxiv. (Unpublished)
Alonge, Michael, Lebeigle, Ludivine, Kirsche, Melanie, Jenike, Katie, Ou, Shujun, Aganezov, Sergey, Wang, Xingang, Lippman, Zachary B, Schatz, Michael C, Soyk, Sebastian (December 2022) Automated assembly scaffolding using RagTag elevates a new tomato system for high-throughput genome editing. Genome Biology, 23 (1). p. 258. ISSN 1474-7596
Altpeter, F., Springer, N. M., Bartley, L. E., Blechl, A., Brutnell, T. P., Citovsky, V., Conrad, L., Gelvin, S. B., Jackson, D., Kausch, A. P., Lemaux, P. G., Medford, J. I., Orozo-Cardenas, M., Tricoli, D., VanEck, J., Voytas, D. F., Walbot, V., Wang, K., Zhang, Z. J., Stewart, C. N. (June 2016) Advancing Crop Transformation in the Era of Genome Editing. Plant Cell, 28 (7). pp. 1510-1520. ISSN 1532-298X (Electronic)1040-4651 (Linking)
Amaral, Paulo, Carbonell-Sala, Silvia, De La Vega, Francisco M, Faial, Tiago, Frankish, Adam, Gingeras, Thomas, Guigo, Roderic, Harrow, Jennifer L, Hatzigeorgiou, Artemis G, Johnson, Rory, Murphy, Terence D, Pertea, Mihaela, Pruitt, Kim D, Pujar, Shashikant, Takahashi, Hazuki, Ulitsky, Igor, Varabyou, Ales, Wells, Christine A, Yandell, Mark, Carninci, Piero, Salzberg, Steven L (October 2023) The status of the human gene catalogue. Nature, 622 (7981). pp. 41-47. ISSN 0028-0836
Amaral, Paulo, Carbonell-Sala, Silvia, De La Vega, Francisco M, Faial, Tiago, Frankish, Adam, Gingeras, Thomas, Guigo, Roderic, Harrow, Jennifer L, Hatzigeorgiou, Artemis G, Johnson, Rory, Murphy, Terence D, Pertea, Mihaela, Pruitt, Kim D, Pujar, Shashikant, Takahashi, Hazuki, Ulitsky, Igor, Varabyou, Ales, Wells, Christine A, Yandell, Mark, Carninci, Piero, Salzberg, Steven L (March 2023) The status of the human gene catalogue. (Submitted)
Aras, R. A., Kang, J., Tschumi, A. I., Harasaki, Y., Blaser, M. J. (November 2003) Extensive repetitive DNA facilitates prokaryotic genome plasticity. Proceedings of the National Academy of Sciences of the United States of America, 100 (23). pp. 13579-13584. ISSN 0027-8424
Aras, R. A., Small, A. J., Ando, T., Blaser, M. J. (December 2002) Helicobacter pylori interstrain restriction-modification diversity prevents genome subversion by chromosomal DNA from competing strains. Nucleic Acids Research, 30 (24). pp. 5391-5397. ISSN 0305-1048
Arbiza, L., Gottipati, S., Siepel, A., Keinan, A. (June 2014) Contrasting X-linked and autosomal diversity across 14 human populations. Am J Hum Genet, 94 (6). pp. 827-44. ISSN 0002-9297
Ballouz, S., Dobin, A., Gillis, J. A. (August 2019) Is it time to change the reference genome? Genome Biol, 20 (1). ISSN 1474-7596
Baslan, T., Kendall, J. T., Rodgers, L., Cox, H., Riggs, M., Stepansky, A., Troge, J. E., Ravi, K., Esposito, D., Lakshmi, B., Wigler, M., Navin, N. E., Hicks, J. B. (May 2012) Genome-wide copy number analysis of single cells. Nat Protoc, 7 (6). pp. 1024-41. ISSN 1750-2799 (Electronic)1750-2799 (Linking)
Bejerano, G., Siepel, A. C., Kent, W. J., Haussler, D. (July 2005) Computational screening of conserved genomic DNA in search of functional noncoding elements. Nat Methods, 2 (7). pp. 535-45. ISSN 1548-7091 (Print)1548-7091
Bevan, M., Bancroft, I., Mewes, H. W., Martienssen, R., McCombie, R. (1999) Clearing a path through the jungle: Progress in Arabidopsis genomics. Bioessays, 21 (2). pp. 110-120. ISSN 02659247 (ISSN)
Bevan, M., Bennetzen, J. L., Martienssen, R. (April 1998) Genome studies and molecular evolution commonalities, contrasts, continuity and change in plant genomes. Current Opinion in Plant Biology, 1 (2). pp. 101-102. ISSN 1369-5266
Bevan, M., Ecker, J., Theologis, S., Federspiel, N., Davis, R., McCombie, D., Martienssen, R., Chen, E., Waterston, B., Wilson, R., Rounsley, S., Venter, C., Tabata, S., Salanoubat, M., Quetier, F., Cherry, J. M., Meinke, D. (April 1997) Objective: The complete sequence of a plant genome. Plant cell, 9 (4). pp. 476-478. ISSN 1040-4651
Blood, P. D., Marcus, S., Schatz, M. C. (July 2014) Large-scale sequencing and assembly of cereal genomes using blacklight. Proceedings of the 2014 Annual Conference on Extreme Science and Engineering Discovery Environment. Article number 20.
Bogdanove, A. J., Koebnik, R., Lu, H., Furutani, A., Angiuoli, S. V., Patil, P. B., Van Sluys, M. A., Ryan, R. P., Meyer, D. F., Han, S. W., Aparna, G., Rajaram, M., Delcher, A. L., Phillippy, A. M., Puiu, D., Schatz, M. C., Shumway, M., Sommer, D. D., Trapnell, C., Benahmed, F., Dimitrov, G., Madupu, R., Radune, D., Sullivan, S., Jha, G., Ishihara, H., Lee, S. W., Pandey, A., Sharma, V., Sriariyanun, M., Szurek, B., Vera-Cruz, C. M., Dorman, K. S., Ronald, P. C., Verdier, V., Dow, J. M., Sonti, R. V., Tsuge, S., Brendel, V. P., Rabinowicz, P. D., Leach, J. E., White, F. F., Salzberg, S. L. (2011) Two new complete genome sequences offer insight into host and tissue specificity of plant pathogenic Xanthomonas spp. Journal of Bacteriology, 193 (19). pp. 5450-5464. ISSN 00219193 (ISSN)
Borges, F., Martienssen, R. A. (April 2013) Establishing epigenetic variation during genome reprogramming. RNA Biology, 10 (4). pp. 490-4. ISSN 1555-8584 (Electronic)1547-6286 (Linking)
Botcheva, K., McCorkle, S. R., McCombie, W. R., Dunn, J. J., Anderson, C. W. (December 2011) Distinct p53 genomic binding patterns in normal and cancer-derived human cells. Cell Cycle, 10 (24). pp. 4237-4249. ISSN 1538-4101
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
Braasch, I., Gehrke, A. R., Smith, J. J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A. M., Campbell, M. S., Barrell, D., Martin, K. J., Mulley, J. F., Ravi, V., Lee, A. P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Canestro, C., Sydes, J., Beaudry, F. E., Sun, Y., Hertel, J., Beam, M. J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J. H., Litman, G. W., Litman, R. T., Mikami, M., Ota, T., Saha, N. R., Williams, L., Stadler, P. F., Wang, H., Taylor, J. S., Fontenot, Q., Ferrara, A., Searle, S. M., Aken, B., Yandell, M., Schneider, I., Yoder, J. A., Volff, J. N., Meyer, A., Amemiya, C. T., Venkatesh, B., Holland, P. W., Guiguen, Y., Bobe, J., Shubin, N. H., Di Palma, F., Alfoldi, J., Lindblad-Toh, K., Postlethwait, J. H. (April 2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nat Genet, 48 (4). pp. 427-37. ISSN 1546-1718 (Electronic)1061-4036 (Linking)
Bradnam, Keith R, Fass, Joseph N, Alexandrov, Anton, Baranay, Paul, Bechner, Michael, Birol, İnanç, Boisvert, Sébastien, Chapman, Jarrod A, Chapuis, Guillaume, Chikhi, Rayan, Chitsaz, Hamidreza, Chou, Wen-Chi, Corbeil, Jacques, Fabbro, Cristian Del, Docking, T Roderick, Durbin, Richard, Earl, Dent, Emrich, Scott, Fedotov, Pavel, Fonseca, Nuno A, Ganapathy, Ganeshkumar, Gibbs, Richard A, Gnerre, Sante, Godzaridis, Élénie, Goldstein, Steve, Haimel, Matthias, Hall, Giles, Haussler, David, Hiatt, Joseph B, Ho, Isaac Y, Howard, Jason, Hunt, Martin, Jackman, Shaun D, Jaffe, David B, Jarvis, Erich, Jiang, Huaiyang, Kazakov, Sergey, Kersey, Paul J, Kitzman, Jacob O, Knight, James R, Koren, Sergey, Lam, Tak-Wah, Lavenier, Dominique, Laviolette, François, Li, Yingrui, Li, Zhenyu, Liu, Binghang, Liu, Yue, Luo, Ruibang, MacCallum, Iain, MacManes, Matthew D, Maillet, Nicolas, Melnikov, Sergey, Vieira, Bruno Miguel, Naquin, Delphine, Ning, Zemin, Otto, Thomas D, Paten, Benedict, Paulo, Octávio S, Phillippy, Adam M, Pina-Martins, Francisco, Place, Michael, Przybylski, Dariusz, Qin, Xiang, Qu, Carson, Ribeiro, Filipe J, Richards, Stephen, Rokhsar, Daniel S, Ruby, J Graham, Scalabrin, Simone, Schatz, Michael C, Schwartz, David C, Sergushichev, Alexey, Sharpe, Ted, Shaw, Timothy I, Shendure, Jay, Shi, Yujian, Simpson, Jared T, Song, Henry, Tsarev, Fedor, Vezzi, Francesco, Vicedomini, Riccardo, Wang, Jun, Worley, Kim C, Yin, Shuangye, Yiu, Siu-Ming, Yuan, Jianying, Zhang, Guojie, Zhang, Hao, Zhou, Shiguo, Korf, Ian F (January 2013) Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species. GigaScience. (Submitted)
Bradnam, K. R., Fass, J. N., Alexandrov, A., Baranay, P., Bechner, M., Birol, I., Boisvert, S., Chapman, J. A., Chapuis, G., Chikhi, R., Chitsaz, H., Chou, W. C., Corbeil, J., Del Fabbro, C., Docking, T. R., Durbin, R., Earl, D., Emrich, S., Fedotov, P., Fonseca, N. A., Ganapathy, G., Gibbs, R. A., Gnerre, S., Godzaridis, E., Goldstein, S., Haimel, M., Hall, G., Haussler, D., Hiatt, J. B., Ho, I. Y., Howard, J., Hunt, M., Jackman, S. D., Jaffe, D. B., Jarvis, E. D., Jiang, H., Kazakov, S., Kersey, P. J., Kitzman, J. O., Knight, J. R., Koren, S., Lam, T. W., Lavenier, D., Laviolette, F., Li, Y., Li, Z., Liu, B., Liu, Y., Luo, R., Maccallum, I., Macmanes, M. D., Maillet, N., Melnikov, S., Naquin, D., Ning, Z., Otto, T. D., Paten, B., Paulo, O. S., Phillippy, A. M., Pina-Martins, F., Place, M., Przybylski, D., Qin, X., Qu, C., Ribeiro, F. J., Richards, S., Rokhsar, D. S., Ruby, J. G., Scalabrin, S., Schatz, M. C., Schwartz, D. C., Sergushichev, A., Sharpe, T., Shaw, T. I., Shendure, J., Shi, Y., Simpson, J. T., Song, H., Tsarev, F., Vezzi, F., Vicedomini, R., Vieira, B. M., Wang, J., Worley, K. C., Yin, S., Yiu, S. M., Yuan, J., Zhang, G., Zhang, H., Zhou, S., Korf, I. F. (2013) Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species. Gigascience, 2 (1). p. 10. ISSN 2047-217x
Brenchley, R., Spannagl, M., Pfeifer, M., Barker, G. L. A., D'Amore, R., Allen, A. M., McKenzie, N., Kramer, M., Kerhornou, A., Bolser, D., Kay, S., Waite, D., Trick, M., Bancroft, I., Gu, Y., Huo, N., Luo, M. C., Sehgal, S., Gill, B., Kianian, S., Anderson, O., Kersey, P., Dvorak, J., McCombie, W. R., Hall, A., Mayer, K. F. X., Edwards, K. J., Bevan, M. W., Hall, N. (November 2012) Analysis of the bread wheat genome using whole-genome shotgun sequencing. Nature, 491 (7426). pp. 705-710. ISSN 00280836
Breschi, A., Gingeras, T. R., Guigo, R. (July 2017) Comparative transcriptomics in human and mouse. Nat Rev Genet, 18 (7). pp. 425-440. ISSN 1471-0056
Brown, M. S., Collins, F. S., Goldstein, J. L., Watson, J. D., Wexler, N. S. (May 1993) Round-Table - the Human Genome Project. Issues in Science and Technology, 10 (1). pp. 43-48. ISSN 0748-5492
Brownstein, C. A., Beggs, A. H., Homer, N., Merriman, B., Yu, T. W., Flannery, K. C., Dechene, E. T., Towne, M. C., Savage, S. K., Price, E. N., Holm, I. A., Luquette, L. J., Lyon, E., Majzoub, J., Neupert, P., McCallie, D., Szolovits, P., Willard, H. F., Mendelsohn, N. J., Temme, R., Finkel, R. S., Yum, S. W., Medne, L., Sunyaev, S. R., Adzhubey, I., Cassa, C. A., de Bakker, P. I., Duzkale, H., Dworzy Ski, P., Fairbrother, W., Francioli, L., Funke, B. H., Giovanni, M. A., Handsaker, R. E., Lage, K., Lebo, M. S., Lek, M., Leshchiner, I., Macarthur, D. G., McLaughlin, H. M., Murray, M. F., Pers, T. H., Polak, P. P., Raychaudhuri, S., Rehm, H. L., Soemedi, R., Stitziel, N. O., Vestecka, S., Supper, J., Gugenmus, C., Klocke, B., Hahn, A., Schubach, M., Menzel, M., Biskup, S., Freisinger, P., Deng, M., Braun, M., Perner, S., Smith, R. J., Andorf, J. L., Huang, J., Ryckman, K., Sheffield, V. C., Stone, E. M., Bair, T., Black-Ziegelbein, E. A., Braun, T. A., Darbro, B., Deluca, A. P., Kolbe, D. L., Scheetz, T. E., Shearer, A. E., Sompallae, R., Wang, K., Bassuk, A. G., Edens, E., Mathews, K., Moore, S. A., Shchelochkov, O. A., Trapane, P., Bossler, A., Campbell, C. A., Heusel, J. W., Kwitek, A., Maga, T., Panzer, K., Wassink, T., Van Daele, D., Azaiez, H., Booth, K., Meyer, N., Segal, M. M., Williams, M. S., Tromp, G., White, P., Corsmeier, D., Fitzgerald-Butt, S., Herman, G., Lamb-Thrush, D. (March 2014) An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biology, 15 (3). R53. ISSN 1465-6906
Campagna, L., Gronau, I., Silveira, L. F., Siepel, A., Lovette, I. J. (August 2015) Distinguishing Noise from Signal in Patterns of Genomic Divergence in a Highly Polymorphic Avian Radiation. Mol Ecol, 24 (16). pp. 4238-4251. ISSN 1365-294X (Electronic)0962-1083 (Linking)
Campbell, M. S., Law, M., Holt, C., Stein, J. C., Moghe, G. D., Hufnagel, D. E., Lei, J., Achawanantakun, R., Jiao, D., Lawrence, C. J., Ware, D., Shiu, S. H., Childs, K. L., Sun, Y., Jiang, N., Yandell, M. (February 2014) MAKER-P: A Tool Kit for the Rapid Creation, Management, and Quality Control of Plant Genome Annotations. Plant Physiol, 164 (2). pp. 513-24. ISSN 0032-0889
Campbell, Michael, Oakeson, Kelly F., Yandell, Mark, Halpert, James R., Dearing, Denise (June 2016) The draft genome sequence and annotation of the desert woodrat Neotoma lepida. Genomics Data, 9. pp. 58-59. ISSN 2213-5960
Cannon, S. B., McCombie, W. R., Sato, S., Tabata, S., Denny, R., Palmer, L., Katari, M., Young, N. D., Stacey, G. (December 2003) Evolution and microsynteny of the apyrase gene family in three legume genomes. Molecular Genetics and Genomics, 270 (4). pp. 347-361. ISSN 1617-4615
Capra, J. A., Hubisz, M. J., Kostka, D., Pollard, K. S., Siepel, A. (2013) A model-based analysis of GC-biased gene conversion in the human and chimpanzee genomes. PLoS Genetics, 9 (8). e1003684. ISSN 15537390 (ISSN)
Carlton, J. M., Hirt, R. P., Silva, J. C., Delcher, A. L., Schatz, M., Zhao, Q., Wortman, J. R., Bidwell, S. L., Alsmark, U. C. M., Besteiro, S., Sicheritz-Ponten, T., Noel, C. J., Dacks, J. B., Foster, P. G., Simillion, C., Van De Peer, Y., Miranda-Saavedra, D., Barton, G. J., Westrop, G. D., Müller, S., Dessi, D., Fiori, P. L., Ren, Q., Paulsen, I., Zhang, H., Bastida-Corcuera, F. D., Simoes-Barbosa, A., Brown, M. T., Hayes, R. D., Mukherjee, M., Okumura, C. Y., Schneider, R., Smith, A. J., Vanacova, S., Villalvazo, M., Haas, B. J., Pertea, M., Feldblyum, T. V., Utterback, T. R., Shu, C. L., Osoegawa, K., De Jong, P. J., Hrdy, I., Horvathova, L., Zubacova, Z., Dolezal, P., Malik, S. B., Logsdon Jr, J. M., Henze, K., Gupta, A., Wang, C. C., Dunne, R. L., Upcroft, J. A., Upcroft, P., White, O., Salzberg, S. L., Tang, P., Chiu, C. H., Lee, Y. S., Embley, T. M., Coombs, G. H., Mottram, J. C., Tachezy, J., Fraser-Liggett, C. M., Johnson, P. J. (2007) Draft genome sequence of the sexually transmitted pathogen Trichomonas vaginalis. Science, 315 (5809). pp. 207-212. ISSN 00368075 (ISSN)
Celniker, S. E., Dillon, L. A., Gerstein, M. B., Gunsalus, K. C., Henikoff, S., Karpen, G. H., Kellis, M., Lai, E. C., Lieb, J. D., MacAlpine, D. M., Micklem, G., Piano, F., Snyder, M., Stein, L. D., White, K. P., Waterston, R. H. (June 2009) Unlocking the secrets of the genome. Nature, 459 (7249). pp. 927-30. ISSN 1476-4687 (Electronic)0028-0836 (Linking)
Chen, N. (May 2004) Using RepeatMasker to identify repetitive elements in genomic sequences. Curr Protoc Bioinformatics, Chapte. Unit 4.10.
Chen, Z., Jaafar, L., Agyekum, D. G., Xiao, H., Wade, M. F., Kumaran, R. I., Spector, D. L., Bao, G., Porteus, M. H., Dynan, W. S., Meiler, S. E. (August 2013) Receptor-mediated delivery of engineered nucleases for genome modification. Nucleic Acids Research, 41 (19). ISSN 03051048 (ISSN)
Cheng, R., Juo, S. H., Loth, J. E., Nee, J., Iossifov, I., Blumenthal, R., Sharpe, L., Kanyas, K., Lerer, B., Lilliston, B., Smith, M., Trautman, K., Gilliam, T. C., Endicott, J., Baron, M. (March 2006) Genome-wide linkage scan in a large bipolar disorder sample from the National Institute of Mental Health genetics initiative suggests putative loci for bipolar disorder, psychosis, suicide, and panic disorder. Mol Psychiatry, 11 (3). pp. 252-60. ISSN 1359-4184 (Print)1359-4184 (Linking)
Cheng, Y., Ma, Z., Kim, B. H., Wu, W., Cayting, P., Boyle, A. P., Sundaram, V., Xing, X., Dogan, N., Li, J., Euskirchen, G., Lin, S., Lin, Y., Visel, A., Kawli, T., Yang, X., Patacsil, D., Keller, C. A., Giardine, B., Kundaje, A., Wang, T., Pennacchio, L. A., Weng, Z., Hardison, R. C., Snyder, M. P., Consortium, Mouse ENCODE (November 2014) Principles of regulatory information conservation between mouse and human. Nature, 515 (7527). pp. 371-5. ISSN 0028-0836
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Zheng, B., Mills, A. A., Bradley, A. (2001) Introducing defined chromosomal rearrangements into the mouse genome. Methods, 24 (1). pp. 81-94. ISSN 10462023 (ISSN)
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
Zhou, S., Wei, F., Nguyen, J., Bechner, M., Potamousis, K., Goldstein, S., Pape, L., Mehan, M. R., Churas, C., Pasternak, S., Forrest, D. K., Wise, R., Ware, D. H., Wing, R. A., Waterman, M. S., Livny, M., Schwartz, D. C. (November 2009) A single molecule scaffold for the maize genome. PLoS Genet, 5 (11). e1000711. ISSN 1553-7404 (Electronic)
Zhu, H., Kim, D. J., Baek, J. M., Choi, H. K., Ellis, L. C., Küester, H., McCombie, W. R., Peng, H. M., Cook, D. R. (2003) Syntenic relationships between Medicago truncatula and Arabidopsis reveal extensive divergence of genome organization. Plant Physiology, 131 (3). pp. 1018-1026. ISSN 00320889 (ISSN)
Zimin, A. V., Delcher, A. L., Florea, L., Kelley, D. R., Schatz, M. C., Puiu, D., Hanrahan, F., Pertea, G., Van Tassell, C. P., Sonstegard, T. S., Marçais, G., Roberts, M., Subramanian, P., Yorke, J. A., Salzberg, S. L. (2009) A whole-genome assembly of the domestic cow, Bos taurus. Genome Biology, 10 (4). ISSN 14747596 (ISSN)
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)
Book Section
Chung, Taemoon, Merrill, Joseph R, Lyons, Scott K (2024) CRISPR/Cas for PET Reporter Gene Engineering. In: Methods in Molecular Biology. UNSPECIFIED, pp. 285-301. ISBN 9781071634981
Narzisi, G., Mishra, B., Schatz, M. C. (2014) On algorithmic complexity of biomolecular sequence assembly problem. In: Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics). Springer, pp. 183-195. ISBN 16113349 - ISSN978-331907952-3
Rabinowicz, Pablo D. (2003) Constructing gene-enriched plant genomic libraries using methylation filtration technology. In: Plant functional genomics: methods and protocols. Methods in Molecular Biology, 236 . Humana Press, pp. 21-36.
Roberts, R. J., Akusjarvi, G., Alestrom, P., Gelinas, R. E., Gingeras, T., Sciaky, D., Pettersson, U. (1986) A consensus sequence for the adenovirus-2 genome. In: Adenovirus DNA: The Viral Genome and Its Expression. Springer, pp. 1-51. ISBN 9780898387582
Xin, Z, Jiao, Y, Chopra, R, Gladman, N, Burow, G, Hayes, C, Chen, J, Emendack, Y, Ware, D, Burke, J (January 2019) Pedigreed mutant library-a unique resource for sorghum improvement and genomics. In: Sorghum: State of the Art and Future Perspectives. American Society of Agronomy and Crop Science Society of America, Inc., pp. 73-96. ISBN 9780891186274
Monograph
Lyon, Gholson J. (2012) Guest post: Time to bring human genome sequencing into the clinic. Discussion Paper. genomesunzipped.org.
Conference or Workshop Item
Chougule, K, Tello-Ruiz, MK, Wei, S, Olson, A, Lu, Z, Kumari, S, Kumar, V, Contreras-Moreira, B, Naamati, G, Dyer, S, Papatheodorou, I, George, N, Elser, J, Naithani, S, Jaiswal, P, Ware, D (January 2024) Pan genome resources for grapevine. In: UNSPECIFIED.
Hubert, Benjamin, Froeling, Fieke, Arora, Kanika, Chu, Tim, Robine, Nicolas, Zody, Michael, Oschwald, Dayna, Varmus, Harold, Sawyers, Charles, Tuveson, David (June 2020) Polyethnic-1000: Advancing cancer genomics by studying ethnically diverse, underserved patient populations in New York. In: Twelfth AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved.
Kapoor, Muskan, Tuggle, Christopher K, Burdett, Tony, Tickle, Timothy, Harrison, Peter, Elsik, Christine, Provart, Nicholas, Libault, Marc, Warren, Wes, Koltes, James E, Sokolov, Alexey, Ventura, Enrique Sapena, Yordanova, Galabina, Papatheodorou, Irene, George, Nancy, Ware, Doreen, Kumari, Sunita, Daharsh, Lance, Cole, Benjamin (2023) Computational Tools and Resources for Analysis and Exploration of Single-Cell Rnaseq Data in Agriculture. In: UNSPECIFIED.
Lyon, G. J. (March 2015) Variants in TAF1 are associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features. In: Cold Spring Harbor Laboratory: Wiring the Brain, Cold Spring Harbor, NY. (Unpublished)
Lyon, G. J. (April 2015) Variants in TAF1 are associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features. In: 10th International Meeting on Copy Variants and Genes in Intellectual Disability and Autism, Troina, Italy. (Unpublished)
Lyon, Gholson J. (November 2013) Advancing Precision Medicine through clinical grade whole genome sequencing, return of results and deep brain stimulation. In: Precision Medicine: Personal Genomes & Pharmacogenomics, Nov 13th - Nov 16th 2103, Cold Spring Harbor, NY . (Unpublished)
Lyon, Gholson J. (October 2013) Amino-terminal acetylation of proteins: role in human disease and biology. In: Stony Brook University Department of Pharmacology Seminar Series, Oct 29th 2013, Stony Brook, NY. (Unpublished)
Lyon, Gholson J. (2012) Challenges of Clinical Implementation of Genomic Medicine. In: Invited Presentation at New York Genome Center, Dec 2012, New York Genome Center. (Unpublished)
Lyon, Gholson J. (2012) Challenges of Clinical Implementation of Genomic Medicine. In: Cold Spring Harbor Laboratory In House Seminar , Nov 20th 2012, Cold Spring Harbor Laboratory. (Unpublished)
Lyon, Gholson J. (September 2013) Childhood-onset Neuropsychiatric Disorders. In: FarGen Summit (Faroe Genome Project), Sept 19th-20th 2013, Tórshavn, The Faroe Islands. (Unpublished)
Lyon, Gholson J. (September 2012) Clinical Genomics Perspective in Psychiatry. In: 3rd Annual Child and Adolescent Psychotherapy and Psychopharmacology Conference, Sept 2012, Philadelphia, PA. (Unpublished)
Lyon, Gholson J. (2012) Clinical Issues with the Return of Next-Generation Sequencing Results. In: The Clinical Genome Conference, June 12th-13th 2012, San Francisco, CA. (Unpublished)
Lyon, Gholson J. (May 2013) Clinical genetics and other aspects of neuropsychiatric disorders. In: The International Behavioural and Neural Genetics Society (IBANGS), Genes, Brain & Behavior 15th Annual Meeting, May 20th-24th 2013, Leuven, Belgium. (Unpublished)
Lyon, Gholson J. (March 2013) Controversies in Giving Data Back. In: The Future of Genomic Medicine VI, March 7th-8th 2013, La Jolla, CA. (Unpublished)
Lyon, Gholson J. (2012) Ethics Panel: Challenges of Clinical Implementation of Genomic Medicine. In: Personal Genomes & Medical Genomics Meeting, Nov 16th 2012, Cold Spring Harbor Laboratory. (Unpublished)
Lyon, Gholson J. (2011) Finding and Analyzing Human Genetic Variation in Neuropsychiatric Disorders. In: Faculty Recruitment Talk, Dec 2011, Cold Spring Harbor Laboratory. (Unpublished)
Lyon, Gholson J. (October 2012) The Implementation of Clinical Genomics: Ethical, Societal and Regulatory Considerations. In: Consumer Genetics Conference, Oct 5th 2012, Boston, MA. (Unpublished)
Lyon, Gholson J. (July 2012) The Implementation of Clinical Genomics: Ethical, Societal and Regulatory Considerations. In: 20th Annual International Conference on Intelligent Systems for Molecular Biology: High Throughput Sequencing Special Interest Group Meeting, July 13th-14th 2012, Long Beach, CA. (Unpublished)
Lyon, Gholson J. (October 2012) Implementation of Variant Calling Algorithms in Clinical Genome Sequencing. In: Bio-IT Europe The Road to the Clinic: Applying Genomics in a Clinical Setting , Oct 10th 2012, Vienna, Austria. (Unpublished)
Lyon, Gholson J. (April 2013) Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. In: COMPUTATIONAL BIOLOGY & BIOINFORMATICS SEMINAR SERIES, April 10th 2013, Cold Spring Harbor Laboratory. (Unpublished)
Lyon, Gholson J. (September 2013) N=1 Human Study in Clinical Neurosciences: Genomics Guided Medicine and Deep Brain Stimulation. In: 5th Annual Consumer Genetics Conference, Sept 25th-27th 2013, Boston, MA. (Unpublished)
Lyon, Gholson J. (September 2011) Returning Research Results from Next‐Generation Sequencing and Analysis to Patients with Idiopathic Disorders? In: Personal Genomes Meeting, Sept 30th - Oct 2nd 2011, Cold Spring Harbor Laboratory. (Unpublished)
Lyon, Gholson J. (November 2012) Software Considerations for Processing, Analyzing and Interpreting Exome & Genome Sequence Data in Clinical Settings. In: World Genome Data Analysis Summit: Pre Conference Workshop, Nov 27th 2012, San Francisco. (Unpublished)
Lyon, Gholson J. (October 2012) Summary of Efforts to Achieve and Evaluate High-Quality Exomes and Genomes. In: Bio-IT Europe Pre-Conference Short Courses: Software Considerations for Processing, Analyzing and Interpreting Sequence Data , Oct 8th 2012, Vienna, Austria. (Unpublished)
Lyon, Gholson J. (August 2012) Taking NGS into the Clinic. In: Cambridge Healthtech Institute Next Gen Seq Meeting, Aug 16th 2012, Providence, RI. (Unpublished)
Lyon, Gholson J. (June 2013) Toward more accurate variant calling for personal genomes. In: The Clinical Genome Conference, June 25th-26th 2013, San Francisco, CA. (Unpublished)
Lyon, Gholson J. (February 2013) Whole Genome Sequencing Analysis of a severe Idiopathic Intellectual Disability Syndrome or "limitations of theory may not be revealed when the facts are too few" - Knox 1958. In: 20th Annual Molecular Psychiatry Meeting, Feb 3rd-5th 2013, Park City, UT. (Unpublished)
Lyon, Gholson J., O'Rawe, Jason, Wu, Yiyang, Rope, Alan, Robison, Reid J., Wang, Kai, Swensen, Jeffrey J. (March 2013) Whole Genome Sequencing Analysis of an Idiopathic Intellectual Disability Syndrome. In: ACMG Annual Clinical Genetics Meeting, March 19th-23rd 2013, Phoenix, AZ. (Unpublished)
Lyon, Gholson J., Robison, Reid J., Wang, Kai (March 2013) The Implementation of Clinical Genomics: Ethical, Societal and Regulatory Considerations. In: ACMG Annual Clinical Genetics Meeting, March 19th-23rd 2013, Phoenix, AZ. (Unpublished)
O'Rawe, Jason, Jiang, Tao, Sun, Guangqing, Wu, Yiyang, Wang, Wei, Hu, Jingchu, Bodily, Paul, Tian, Lifeng, Harkonarson, Hakon, Johnson, W. Evan, Robison, Reid J., Wei, Zhi, Wang, Kai, Lyon, Gholson J. (March 2013) Toward more accurate variant calling for “personal genomes”. In: ACMG Annual Clinical Genetics Meeting, March 19th-23rd 2013, Phoenix, AZ. (Unpublished)
Robine, Nicolas, Froeling, Fieke, Hubert, Benjamin, Zody, Michael C, Oschwald, Dayna, Varmus, Harold, Sawyers, Charles, Tuveson, David (June 2020) Polyethnic-1000: Advancing cancer genomics by studying ethnically diverse, underserved patient populations in New York. In: Eleventh AACR Conference on The Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved.
Rogers, J., Rubin, E., Stewart, D., Stillman, B. (2003) The Genome of Homo Sapiens. In: Cold Spring Harbor Symposia on Quantitative Biology LXVIII: The Genome of Homo Sapiens, Cold Spring Harbor.
Book
Hilgert, U., McKay, S., Ghiban, C., Khalfan, M., Micklos, D., Williams, J. (July 2014) DNA Subway: Making genome analysis egalitarian. ACM International Conference Proceeding Series . Association for Computing Machinery, Article number 70. ISBN 978-145032893-7
Thesis
Bekritsky, M. (August 2014) Detecting de novo microsatellite mutations in a population of families with sporadic autism. PhD thesis, Cold Spring Harbor Laboratory.
Toneyan, Shushan (May 2024) Evaluating and interpreting genomic insights from sequence-based deep learning for regulatory genomics. PhD thesis, Cold Spring Harbor Laboratory.
Patent
Thomas Gingeras (1991) Prenatal sex determination of bovine cells using male-specific oligonucleotides. United States Patent 5055393. .
Video
Atwal, G. S. (November 2012) Talk from Mickey Atwal at the Cold Spring Harbor Laboratory In-House Symposium (2012). [Video] (Unpublished)
Lyon, Gholson J. (November 2013) Advancing Precision Medicine through clinical grade whole genome sequencing, return of results and deep brain stimulation. [Video] (Unpublished)
Lyon, Gholson J. (November 2012) Talk from Gholson Lyon at the Cold Spring Harbor Laboratory In-House Symposium (2012). [Video] (Unpublished)
McCombie, W. R. (November 2012) Talk from Dick McCombie at the Cold Spring Harbor Laboratory In-House Symposium (2012). [Video] (Unpublished)
Mills, A. A. (November 2011) Talk from Alea Mills at the Cold Spring Harbor Laboratory In-House Symposium (2011). [Video] (Unpublished)
O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (2013) Supplementary video of subject M.A for Integrating precision medicine in the study and clinical treatment of a severely mentally ill person. PeerJ 1:e177. [Video]
Audio
Gramza, Joyce, Lyon, Gholson J. (2012) Humane Treatment for Patients: How to Handle Genetic Information. [Audio]
Lyon, Gholson J. (December 2013) FDA Crackdown on 23andMe Delays a Revolution in Medicine. [Audio] (Unpublished)
Lyon, Gholson J. (2012) A New Tool for Personal Genomics. [Audio]
Dataset
Mistry, M., Gillis, J., Pavlidis, P. (2013) Data and design files for 6 public datasets used in "Genome-wide expression profiling of schizophrenia using a large combined cohort" Mistry, M. and Gillis, J. and Pavlidis, P. (2013) Molecular Psychiatry, 18 (2). pp. 215-225. [Dataset]
Teaching Resource
Lyon, Gholson J. (April 2013) Exome and Genome Sequencing. [Teaching Resource] (Unpublished)
Lyon, Gholson J. (May 2013) Exome and Genome Sequencing. [Teaching Resource] (Unpublished)
Other
Lyon, Gholson J. (April 2013) Genome Engineering Using CRISPR. Journal Club. (Unpublished)