The Genome Sequence of Drosophila melanogaster

Autor: Adams, Mark D., Celniker, Susan E., Holt, Robert A., Evans, Cheryl A., Gocayne, Jeannine D., Amanatides, Peter G., Scherer, Steven E., Li, Peter W., Hoskins, Roger A., Galle, Richard F., George, Reed A., Lewis, Suzanna E., Richards, Stephen, Ashburner, Michael, Henderson, Scott N., Sutton, Granger G., Wortman, Jennifer R., Yandell, Mark D., Zhang, Qing, Chen, Lin X., Brandon, Rhonda C., Rogers, Yu-Hui C., Blazej, Robert G., Champe, Mark, Pfeiffer, Barret D., Wan, Kenneth H., Doyle, Clare, Baxter, Evan G., Helt, Gregg, Nelson, Catherine R., Abril, Josep F., Agbayani, Anna, An, Hui-Jin, Andrews-Pfannkoch, Cynthia, Baldwin, Danita, Ballew, Richard M., Basu, Anand, Baxendale, James, Bayraktaroglu, Leyla, Beasley, Ellen M., Beeson, Karen Y., Benos, P. V., Berman, Benjamin P., Bhandari, Deepali, Bolshakov, Slava, Borkova, Dana, Botchan, Michael R., Bouck, John, Brokstein, Peter, Brottier, Phillipe, Burtis, Kenneth C., Busam, Dana A., Butler, Heather, Cadieu, Edouard, Chandra, Ishwar, Cherry, J. Michael, Cawley, Simon, Dahlke, Carl, Davenport, Lionel B., Davies, Peter, de Pablos, Beatriz, Delcher, Arthur, Deng, Zuoming, Mays, Anne Deslattes, Dew, Ian, Dietz, Suzanne M., Dodson, Kristina, Doup, Lisa E., Downes, Michael, Dugan-Rocha, Shannon, Dunkov, Boris C., Dunn, Patrick, Durbin, Kenneth J., Evangelista, Carlos C., Ferraz, Concepcion, Ferriera, Steven, Fleischmann, Wolfgang, Fosler, Carl, Gabrielian, Andrei E., Garg, Neha S., Gelbart, William M., Glasser, Ken, Glodek, Anna, Gong, Fangcheng, Gorrell, J. Harley, Gu, Zhiping, Guan, Ping, Harris, Michael, Harris, Nomi L., Harvey, Damon, Heiman, Thomas J., Hernandez, Judith R., Houck, Jarrett, Hostin, Damon, Houston, Kathryn A., Howland, Timothy J., Wei, Ming-Hui, Ibegwam, Chinyere, Jalali, Mena, Kalush, Francis, Karpen, Gary H., Ke, Zhaoxi, Kennison, James A., Ketchum, Karen A., Kimmel, Bruce E., Kodira, Chinnappa D., Kraft, Cheryl, Kravitz, Saul, Kulp, David, Lai, Zhongwu, Lasko, Paul, Lei, Yiding, Levitsky, Alexander A., Li, Jiayin, Li, Zhenya, Liang, Yong, Lin, Xiaoying, Liu, Xiangjun, Mattei, Bettina, McIntosh, Tina C., McLeod, Michael P., McPherson, Duncan, Merkulov, Gennady, Milshina, Natalia V., Mobarry, Clark, Morris, Joe, Moshrefi, Ali, Mount, Stephen M., Moy, Mee, Murphy, Brian, Murphy, Lee, Muzny, Donna M., Nelson, David L., Nelson, David R., Nelson, Keith A., Nixon, Katherine, Nusskern, Deborah R., Pacleb, Joanne M., Palazzolo, Michael, Pittman, Gjange S., Pan, Sue, Pollard, John, Puri, Vinita, Reese, Martin G., Reinert, Knut, Remington, Karin, Scheeler, Frederick, Shen, Hua, Shue, Bixiang Christopher, Sidén-Kiamos, Inga, Simpson, Michael, Skupski, Marian P., Smith, Tom, Spier, Eugene, Spradling, Allan C., Stapleton, Mark, Strong, Renee, Sun, Eric, Svirskas, Robert, Tector, Cyndee, Turner, Russell, Venter, Eli, Wang, Aihui H., Wang, Xin, Wang, Zhen-Yuan, Wassarman, David A., Weinstock, George M., Weissenbach, Jean, Williams, Sherita M., Woodage, Trevor, Worley, Kim C., Wu, David, Yang, Song, Yao, Q. Alison, Ye, Jane, Yeh, Ru-Fang, Zaveri, Jayshree S., Zhan, Ming, Zhang, Guangren, Zhao, Qi, Zheng, Liansheng, Zheng, Xiangqun H., Zhong, Fei N., Zhong, Wenyan, Zhou, Xiaojun, Zhu, Shiaoping, Zhu, Xiaohong, Smith, Hamilton O., Gibbs, Richard A., Myers, Eugene W., Rubin, Gerald M., Venter, J. Craig

Publikováno v: Science, 2000 Mar . 287(5461), 2185-2195.

Externí odkaz: https://www.jstor.org/stable/3074811

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Additional file 4: of The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool

Autor: Flygare, Steven, Hernandez, Edgar, Phan, Lon, Moore, Barry, Li, Man, Fejes, Anthony, Hu, Hao, Eilbeck, Karen, Huff, Chad, Jorde, Lynn, Reese, Martin G., Yandell, Mark

Figure S4. CADD box plots for all ClinVar and NA12878 variants broken down by CADD scoring class. These results help to explain CADDâ s call rate on NA12878. Note that CADD assigns high scores to FRAME_SHIFT and STOP_GAINED variants in both ClinVar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28e6c0a94ecd6a6414184c6f3c26383c

Additional file 3: of The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool

Autor: Flygare, Steven, Hernandez, Edgar, Phan, Lon, Moore, Barry, Li, Man, Fejes, Anthony, Hu, Hao, Eilbeck, Karen, Huff, Chad, Jorde, Lynn, Reese, Martin G., Yandell, Mark

Figure S3. Mean scores broken down by allele frequency for VVP, CADD and SIFT. Data are for NA12878 WGS. Note very non-linear nature of the VVP curve compared to CADD and SIFT. As a result, VVP will rarely assign a common variant a high score. A desi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::780aa3826c864f9eb7bcdf8cc7b65f33