Items where Subject is "annotation"
- CSHL Subject List (284)
- bioinformatics (284)
- genomics and proteomics (284)
- annotation (284)
- map annotation (58)
- phenotyping (9)
- sequence annotation (122)
- variant calling (7)
- annotation (284)
- genomics and proteomics (284)
- bioinformatics (284)
Paper
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)
Amid, C., Frankish, A., Aken, B., Ezkurdia, I., Kokocinsk, F., Gilbert, J., White, S., Carninci, P., Gingeras, T. R., Guigo, R., Searle, S., Tress, M. L., Harrow, J., Hubbard, T. (2010) From identification to validation to gene count. Genome Biology, 11 (Suppl ). ISSN 1474-760X
Bayer, P. E., Golicz, A. A., Scheben, A., Batley, J., Edwards, D. (August 2020) Plant pan-genomes are the new reference. Nat Plants, 6 (8). pp. 914-920. ISSN 2055-0278
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
Benoit, Matthias, Drost, Hajk-Georg (April 2021) A Predictive Approach to Infer the Activity and Natural Variation of Retrotransposon Families in Plants. Methods in Molecular Biology, 2250. pp. 1-14. ISSN 1064-3745
Buell, C. R., McCombie, W. R., Wing, R. A., Yuan, Q., Ouyang, S., Liu, J., Zhu, W., Wang, A., Maiti, R., Haas, B., Wortman, J., Pertea, M., Jones, K. M., Kim, M., Overton, L., Tsitrin, T., Fadrosh, D., Bera, J., Weaver, J., Jin, S., Johri, S., Reardon, M., Webb, K., Hill, J., Moffat, K., Tallon, L., Van Aken, S., Lewis, M., Utterback, T., Feldblyum, T., Zismann, V., Iobst, S., Hsiao, J., De Vazeille, A. R., Salzberg, S. L., White, O., Fraser, C., Yu, Y., Kim, H., Rambo, T., Currie, J., Collura, K., Kernodle-Thompson, S., Wei, F., Kudrna, D., Ammiraju, J. S. S., Luo, M., Goicoechea, J. L., Henry, D., Oates, R., Palmer, M., Pries, G., Saski, C., Simmons, J., Soderlund, C., Nelson, W., De La Bastide, M., Spiegel, L., Nascimento, L., Huang, E., Preston, R., Zutavern, T., Palmer, L., O'Haughnessy, A., Dike, S., Minx, P., Cordum, H., Wilson, R., Jin, W., Lee, H. R., Jiang, J., Jackson, S. (2005) Sequence, annotation, and analysis of synteny between rice chromosome 3 and diverged grass species. The Rice Chromosome 3 Sequencing Consortium. Genome Research, 15 (9). pp. 1284-1291. ISSN 10889051 (ISSN)
Chen, N., Stein, L. D. (May 2006) Conservation and functional significance of gene topology in the genome of Caenorhabditis elegans. Genome Res, 16 (5). pp. 606-17. ISSN 1088-9051 (Print)
Chougule, K. M., Wang, L., Stein, J. C., Wang, X., Devisetty, U. K., Klein, R. R., Ware, D. (August 2018) Improved RNA-seq Workflows Using CyVerse Cyberinfrastructure. Curr Protoc Bioinformatics. e53. ISSN 1934-3396
Crow, M., Gillis, J. (August 2018) Co-expression in Single-Cell Analysis: Saving Grace or Original Sin? Trends Genet, 34 (11). pp. 823-831. ISSN 0168-9525 (Print)0168-9525
Crow, Megan, Suresh, Hamsini, Lee, John, Gillis, Jesse (April 2022) Coexpression reveals conserved gene programs that co-vary with cell type across kingdoms. Nucleic Acids Research. ISSN 0305-1048
Dampanaboina, L., Jiao, Y., Chen, J., Gladman, N., Chopra, R., Burow, G., Hayes, C., Christensen, S. A., Burke, J., Ware, D., Xin, Z. (October 2019) Sorghum MSD3 Encodes an omega-3 Fatty Acid Desaturase that Increases Grain Number by Reducing Jasmonic Acid Levels. Int J Mol Sci, 20 (21). ISSN 1422-0067 (Public Dataset)
Dowell, R. D., Jokerst, R. M., Day, A., Eddy, S. R., Stein, L. (2001) The distributed annotation system. BMC Bioinformatics, 2. p. 7.
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
Gillis, J., Pavlidis, P. (February 2013) Assessing identity, redundancy and confounds in Gene Ontology annotations over time. Bioinformatics, 29 (4). pp. 476-82. ISSN 1367-4811 (Electronic)1367-4803 (Linking)
Guerler, Aysam, Baker, Dannon, van den Beek, Marius, Gruening, Bjoern, Bouvier, Dave, Coraor, Nate, Shank, Stephen D, Zehr, Jordan D, Schatz, Michael C, Nekrutenko, Anton (June 2023) Fast and accurate genome-wide predictions and structural modeling of protein-protein interactions using Galaxy. BMC Bioinformatics, 24 (1). p. 263. ISSN 1471-2105
Harrison, Peter W, Amode, M Ridwan, Austine-Orimoloye, Olanrewaju, Azov, Andrey G, Barba, Matthieu, Barnes, If, Becker, Arne, Bennett, Ruth, Berry, Andrew, Bhai, Jyothish, Bhurji, Simarpreet Kaur, Boddu, Sanjay, Branco Lins, Paulo R, Brooks, Lucy, Ramaraju, Shashank Budhanuru, Campbell, Lahcen I, Martinez, Manuel Carbajo, Charkhchi, Mehrnaz, Chougule, Kapeel, Cockburn, Alexander, Davidson, Claire, De Silva, Nishadi H, Dodiya, Kamalkumar, Donaldson, Sarah, El Houdaigui, Bilal, Naboulsi, Tamara El, Fatima, Reham, Giron, Carlos Garcia, Genez, Thiago, Grigoriadis, Dionysios, Ghattaoraya, Gurpreet S, Martinez, Jose Gonzalez, Gurbich, Tatiana A, Hardy, Matthew, Hollis, Zoe, Hourlier, Thibaut, Hunt, Toby, Kay, Mike, Kaykala, Vinay, Le, Tuan, Lemos, Diana, Lodha, Disha, Marques-Coelho, Diego, Maslen, Gareth, Merino, Gabriela Alejandra, Mirabueno, Louisse Paola, Mushtaq, Aleena, Hossain, Syed Nakib, Ogeh, Denye N, Sakthivel, Manoj Pandian, Parker, Anne, Perry, Malcolm, Piližota, Ivana, Poppleton, Daniel, Prosovetskaia, Irina, Raj, Shriya, Pérez-Silva, José G, Salam, Ahamed Imran Abdul, Saraf, Shradha, Saraiva-Agostinho, Nuno, Sheppard, Dan, Sinha, Swati, Sipos, Botond, Sitnik, Vasily, Stark, William, Steed, Emily, Suner, Marie-Marthe, Surapaneni, Likhitha, Sutinen, Kyösti, Tricomi, Francesca Floriana, Urbina-Gómez, David, Veidenberg, Andres, Walsh, Thomas A, Ware, Doreen, Wass, Elizabeth, Willhoft, Natalie L, Allen, Jamie, Alvarez-Jarreta, Jorge, Chakiachvili, Marc, Flint, Bethany, Giorgetti, Stefano, Haggerty, Leanne, Ilsley, Garth R, Keatley, Jon, Loveland, Jane E, Moore, Benjamin, Mudge, Jonathan M, Naamati, Guy, Tate, John, Trevanion, Stephen J, Winterbottom, Andrea, Frankish, Adam, Hunt, Sarah E, Cunningham, Fiona, Dyer, Sarah, Finn, Robert D, Martin, Fergal J, Yates, Andrew D (November 2023) Ensembl 2024. Nucleic Acids Research. gkad1049. ISSN 0305-1048
Hladish, T., Gopalan, V., Liang, C., Qiu, W., Yang, P., Stoltzfus, A. (June 2007) Bio :: NEXUS: a Perl API for the NEXUS format for comparative biological data. Bmc Bioinformatics, 8. p. 191. ISSN 1471-2105
Howe, K. L., Contreras-Moreira, B., De Silva, N., Maslen, G., Akanni, W., Allen, J., Alvarez-Jarreta, J., Barba, M., Bolser, D. M., Cambell, L., Carbajo, M., Chakiachvili, M., Christensen, M., Cummins, C., Cuzick, A., Davis, P., Fexova, S., Gall, A., George, N., Gil, L., Gupta, P., Hammond-Kosack, K. E., Haskell, E., Hunt, S. E., Jaiswal, P., Janacek, S. H., Kersey, P. J., Langridge, N., Maheswari, U., Maurel, T., McDowall, M. D., Moore, B., Muffato, M., Naamati, G., Naithani, S., Olson, A., Papatheodorou, I., Patricio, M., Paulini, M., Pedro, H., Perry, E., Preece, J., Rosello, M., Russell, M., Sitnik, V., Staines, D. M., Stein, J., Tello-Ruiz, M. K., Trevanion, S. J., Urban, M., Wei, S., Ware, D., Williams, G., Yates, A. D., Flicek, P. (January 2020) Ensembl Genomes 2020-enabling non-vertebrate genomic research. Nucleic Acids Res, 48 (1). pp. 689-695. ISSN 0305-1048
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
Ilic, K., Kellogg, E. A., Jaiswal, P., Zapata, F., Stevens, P. F., Vincent, L. P., Avraham, S., Reiser, L., Pujar, A., Sachs, M. M., Whitman, N. T., McCouch, S. R., Schaeffer, M. L., Ware, D. H., Stein, L. D., Rhee, S. Y. (February 2007) The plant structure ontology, a unified vocabulary of anatomy and morphology of a flowering plant. Plant Physiology, 143 (2). pp. 587-599. ISSN 0032-0889
Jin, Y., Hammell, M. (February 2018) Analysis of RNA-Seq Data Using TEtranscripts. Methods Mol Biol, 1751. pp. 153-167. ISSN 1064-3745
Jorstad, Nikolas L, Song, Janet HT, Exposito-Alonso, David, Suresh, Hamsini, Castro-Pacheco, Nathan, Krienen, Fenna M, Yanny, Anna Marie, Close, Jennie, Gelfand, Emily, Long, Brian, Seeman, Stephanie C, Travaglini, Kyle J, Basu, Soumyadeep, Beaudin, Marc, Bertagnolli, Darren, Crow, Megan, Ding, Song-Lin, Eggermont, Jeroen, Glandon, Alexandra, Goldy, Jeff, Kiick, Katelyn, Kroes, Thomas, McMillen, Delissa, Pham, Trangthanh, Rimorin, Christine, Siletti, Kimberly, Somasundaram, Saroja, Tieu, Michael, Torkelson, Amy, Feng, Guoping, Hopkins, William D, Höllt, Thomas, Keene, C Dirk, Linnarsson, Sten, McCarroll, Steven A, Lelieveldt, Boudewijn P, Sherwood, Chet C, Smith, Kimberly, Walsh, Christopher A, Dobin, Alexander, Gillis, Jesse, Lein, Ed S, Hodge, Rebecca D, Bakken, Trygve E (October 2023) Comparative transcriptomics reveals human-specific cortical features. Science, 382 (6667). eade9516. ISSN 0036-8075
Kawahara, Y., de la Bastide, M., Hamilton, J. P., Kanamori, H., McCombie, W. R., Ouyang, S., Schwartz, D. C., Tanaka, T., Wu, J., Zhou, S., Childs, K. L., Davidson, R. M., Lin, H., Quesada-Ocampo, L., Vaillancourt, B., Sakai, H., Lee, S. S., Kim, J., Numa, H., Itoh, T., Buell, C. R., Matsumoto, T. (2013) Improvement of the oryza sativa nipponbare reference genome using next generation sequence and optical map data. Rice, 6 (1). pp. 3-10. ISSN 19398425 (ISSN)
Knauer, S., Javelle, M., Li, L., Li, X., Ma, X., Wimalanathan, K., Kumari, S., Johnston, R., Leiboff, S., Meeley, R., Schnable, P. S., Ware, D., Lawrence-Dill, C., Yu, J., Muehlbauer, G. J., Scanlon, M. J., Timmermans, M. C. P. (November 2019) A high-resolution gene expression atlas links dedicated meristem genes to key architectural traits. Genome Res, 29 (12). pp. 1962-1973. ISSN 1088-9051 (Public Dataset)
Luo, W., Friedman, M. S., Shedden, K., Hankenson, K. D., Woolf, P. J. (May 2009) GAGE: generally applicable gene set enrichment for pathway analysis. BMC Bioinformatics, 10. p. 161.
Mattick, John S, Amaral, Paulo P, Carninci, Piero, Carpenter, Susan, Chang, Howard Y, Chen, Ling-Ling, Chen, Runsheng, Dean, Caroline, Dinger, Marcel E, Fitzgerald, Katherine A, Gingeras, Thomas R, Guttman, Mitchell, Hirose, Tetsuro, Huarte, Maite, Johnson, Rory, Kanduri, Chandrasekhar, Kapranov, Philipp, Lawrence, Jeanne B, Lee, Jeannie T, Mendell, Joshua T, Mercer, Timothy R, Moore, Kathryn J, Nakagawa, Shinichi, Rinn, John L, Spector, David L, Ulitsky, Igor, Wan, Yue, Wilusz, Jeremy E, Wu, Mian (January 2023) Long non-coding RNAs: definitions, functions, challenges and recommendations. Nature Reviews Molecular Cell Biology. ISSN 1471-0072
Moravec, Jiří C, Lanfear, Robert, Spector, David L, Diermeier, Sarah D, Gavryushkin, Alex (December 2022) Testing for Phylogenetic Signal in Single-Cell RNA-Seq Data. Journal of Computational Biology. ISSN 1066-5277
Pirooznia, M., Kramer, M., Parla, J., Goes, F. S., Potash, J. B., McCombie, W. R., Zandi, P. P. (July 2014) Validation and assessment of variant calling pipelines for next-generation sequencing. Human Genomics, 8. ISSN 1473-95421479-7364 eISSN
Roux de Bézieux, Hector, Street, Kelly, Fischer, Stephan, Van den Berge, Koen, Chance, Rebecca, Risso, Davide, Gillis, Jesse, Ngai, John, Purdom, Elizabeth, Dudoit, Sandrine (May 2024) Improving replicability in single-cell RNA-Seq cell type discovery with Dune. BMC Bioinformatics, 25 (1). p. 198. ISSN 1471-2105 (Public Dataset)
Seaver, S. M., Gerdes, S., Frelin, O., Lerma-Ortiz, C., Bradbury, L. M., Zallot, R., Hasnain, G., Niehaus, T. D., El Yacoubi, B., Pasternak, S., Olson, R., Pusch, G., Overbeek, R., Stevens, R., de Crecy-Lagard, V., Ware, D., Hanson, A. D., Henry, C. S. (June 2014) High-throughput comparison, functional annotation, and metabolic modeling of plant genomes using the PlantSEED resource. Proceedings of the National Academy of Sciences of the United States of America, 111 (26). pp. 9645-9650. ISSN 0027-8424
Staklinski, Stephen J, Scheben, Armin, Siepel, Adam, Kilberg, Michael S (November 2023) Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification. bioRxiv. (Submitted)
Stein, L. (August 2003) Large scale sequencing. Current Protocols in Bioinformatics. Unit 11.01. ISSN 1934-340X (Electronic)1934-3396 (Linking)
Velt, Amandine, Frommer, Bianca, Blanc, Sophie, Holtgräwe, Daniela, Duchêne, Éric, Dumas, Vincent, Grimplet, Jérôme, Hugueney, Philippe, Kim, Catherine, Lahaye, Marie, Matus, José Tomás, Navarro-Payá, David, Orduña, Luis, Tello-Ruiz, Marcela K, Vitulo, Nicola, Ware, Doreen, Rustenholz, Camille (May 2023) An improved reference of the grapevine genome reasserts the origin of the PN40024 highly homozygous genotype. G3: Genes, Genomes, Genetics, 13 (5). jkad067. ISSN 2160-1836
Xuan, Z. Y., Zhao, F., Wang, J., Chen, G., Zhang, M. Q. (2005) Genome-wide promoter extraction and analysis in human, mouse, and rat. Genome Biology, 6 (8). R72. ISSN 1465-6906
Yao, J., Zhang, K. X., Kramer, M., Pellegrini, M., McCombie, W. R. (January 2014) FamAnn: an automated variant annotation pipeline to facilitate target discovery for family-based sequencing studies. Bioinformatics. ISSN 1367-4803
Zhou, Juannan, Wong, Mandy S, Chen, Wei-Chia, Krainer, Adrian R, Kinney, Justin B, McCandlish, David M (September 2022) Higher-order epistasis and phenotypic prediction. Proceedings of the National Academy of Sciences of USA, 119 (39). e2204233119. ISSN 0027-8424
Ziamtsov, I., Navlakha, S. (October 2019) Machine learning approaches to improve three basic plant phenotyping tasks using 3D point clouds. Plant Physiol. ISSN 0032-0889
Zoubarev, A., Hamer, K. M., Keshav, K. D., McCarthy, E. L., Santos, J. R. C., Van Rossum, T., McDonald, C., Hall, A., Wan, X., Lim, R., Gillis, J., Pavlidis, P. (September 2012) Gemma: a resource for the reuse, sharing and meta-analysis of expression profiling data. Bioinformatics, 28 (17). pp. 2272-2273. ISSN 1367-4803
Dataset
Gillis, J., Pavlidis, P. (2013) Data from "Assessing identity, redundancy and confounds in Gene Ontology annotations over time". [Dataset]
Gillis, J., Pavlidis, P. (2013) Use case: The postsynaptic proteome, from "Assessing identity, redundancy and confounds in Gene Ontology annotations over time". [Dataset]