檢索結果 - Reese, Martin G

EGASP: Introduction 由 Reese, Martin G, Guigó, Roderic

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Genie—Gene Finding in Drosophila melanogaster 由 Reese, Martin G., Kulp, David, Tammana, Hari, Haussler, David

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VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Conservation-Controlled Amino Acid Substitution Matrix 由 Hu, Hao, Huff, Chad D, Moore, Barry, Flygare, Steven, Reese, Martin G, Yandell, Mark

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Clinical analysis of genome next-generation sequencing data using the Omicia platform 由 Coonrod, Emily M, Margraf, Rebecca L, Russell, Archie, Voelkerding, Karl V, Reese, Martin G

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Genome-Wide Analysis of Human Disease Alleles Reveals That Their Locations Are Correlated in Paralogous Proteins 由 Yandell, Mark, Moore, Barry, Salas, Fidel, Mungall, Chris, MacBride, Andrew, White, Charles, Reese, Martin G.

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Genome Annotation Assessment in Drosophila melanogaster 由 Reese, Martin G., Hartzell, George, Harris, Nomi L., Ohler, Uwe, Abril, Josep F., Lewis, Suzanna E.

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Global analysis of disease-related DNA sequence variation in 10 healthy individuals: Implications for whole genome-based clinical diagnostics 由 Moore, Barry, Hu, Hao, Singleton, Marc, De La Vega, Francisco M., Reese, Martin G., Yandell, Mark

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A probabilistic disease-gene finder for personal genomes 由 Yandell, Mark, Huff, Chad, Hu, Hao, Singleton, Marc, Moore, Barry, Xing, Jinchuan, Jorde, Lynn B., Reese, Martin G.

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Using VAAST to Identify Disease-Associated Variants in Next-Generation Sequencing Data 由 Kennedy, Brett, Kronenberg, Zev, Hu, Hao, Moore, Barry, Flygare, Steven, Reese, Martin G., Jorde, Lynn B., Yandell, Mark, Huff, Chad

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A standard variation file format for human genome sequences 由 Reese, Martin G, Moore, Barry, Batchelor, Colin, Salas, Fidel, Cunningham, Fiona, Marth, Gabor T, Stein, Lincoln, Flicek, Paul, Yandell, Mark, Eilbeck, Karen

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Integrating precision medicine in the study and clinical treatment of a severely mentally ill person 由 O’Rawe, Jason A., Fang, Han, Rynearson, Shawn, Robison, Reid, Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J.

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Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families 由 Singleton, Marc V., Guthery, Stephen L., Voelkerding, Karl V., Chen, Karin, Kennedy, Brett, Margraf, Rebecca L., Durtschi, Jacob, Eilbeck, Karen, Reese, Martin G., Jorde, Lynn B., Huff, Chad D., Yandell, Mark

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EGASP: the human ENCODE Genome Annotation Assessment Project 由 Guigó, Roderic, Flicek, Paul, Abril, Josep F, Reymond, Alexandre, Lagarde, Julien, Denoeud, France, Antonarakis, Stylianos, Ashburner, Michael, Bajic, Vladimir B, Birney, Ewan, Castelo, Robert, Eyras, Eduardo, Ucla, Catherine, Gingeras, Thomas R, Harrow, Jennifer, Hubbard, Tim, Lewis, Suzanna E, Reese, Martin G

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A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data 由 Hu, Hao, Roach, Jared C, Coon, Hilary, Guthery, Stephen L, Voelkerding, Karl V, Margraf, Rebecca L, Durtschi, Jacob D, Tavtigian, Sean V, Shankaracharya, Wu, Wilfred, Scheet, Paul, Wang, Shuoguo, Xing, Jinchuan, Glusman, Gustavo, Hubley, Robert, Li, Hong, Garg, Vidu, Moore, Barry, Hood, Leroy, Galas, David J, Srivastava, Deepak, Reese, Martin G, Jorde, Lynn B, Yandell, Mark, Huff, Chad D

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Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases 由 De La Vega, Francisco M., Chowdhury, Shimul, Moore, Barry, Frise, Erwin, McCarthy, Jeanette, Hernandez, Edgar Javier, Wong, Terence, James, Kiely, Guidugli, Lucia, Agrawal, Pankaj B., Genetti, Casie A., Brownstein, Catherine A., Beggs, Alan H., Löscher, Britt-Sabina, Franke, Andre, Boone, Braden, Levy, Shawn E., Õunap, Katrin, Pajusalu, Sander, Huentelman, Matt, Ramsey, Keri, Naymik, Marcus, Narayanan, Vinodh, Veeraraghavan, Narayanan, Billings, Paul, Reese, Martin G., Yandell, Mark, Kingsmore, Stephen F.

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Population Genetic Inference from Personal Genome Data: Impact of Ancestry and Admixture on Human Genomic Variation 由 Kidd, Jeffrey M., Gravel, Simon, Byrnes, Jake, Moreno-Estrada, Andres, Musharoff, Shaila, Bryc, Katarzyna, Degenhardt, Jeremiah D., Brisbin, Abra, Sheth, Vrunda, Chen, Rong, McLaughlin, Stephen F., Peckham, Heather E., Omberg, Larsson, Bormann Chung, Christina A., Stanley, Sarah, Pearlstein, Kevin, Levandowsky, Elizabeth, Acevedo-Acevedo, Suehelay, Auton, Adam, Keinan, Alon, Acuña-Alonzo, Victor, Barquera-Lozano, Rodrigo, Canizales-Quinteros, Samuel, Eng, Celeste, Burchard, Esteban G., Russell, Archie, Reynolds, Andy, Clark, Andrew G., Reese, Martin G., Lincoln, Stephen E., Butte, Atul J., De La Vega, Francisco M., Bustamante, Carlos D.

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Assuring the quality of next-generation sequencing in clinical laboratory practice 由 Gargis, Amy S, Kalman, Lisa, Berry, Meredith W, Bick, David P, Dimmock, David P, Hambuch, Tina, Lu, Fei, Lyon, Elaine, Voelkerding, Karl V, Zehnbauer, Barbara A, Agarwala, Richa, Bennett, Sarah F, Chen, Bin, Chin, Ephrem L H, Compton, John G, Das, Soma, Farkas, Daniel H, Ferber, Matthew J, Funke, Birgit H, Furtado, Manohar R, Ganova-Raeva, Lilia M, Geigenmüller, Ute, Gunselman, Sandra J, Hegde, Madhuri R, Johnson, Philip L F, Kasarskis, Andrew, Kulkarni, Shashikant, Lenk, Thomas, Liu, C S Jonathan, Manion, Megan, Manolio, Teri A, Mardis, Elaine R, Merker, Jason D, Rajeevan, Mangalathu S, Reese, Martin G, Rehm, Heidi L, Simen, Birgitte B, Yeakley, Joanne M, Zook, Justin M, Lubin, Ira M

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Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding 由 McKernan, Kevin Judd, Peckham, Heather E., Costa, Gina L., McLaughlin, Stephen F., Fu, Yutao, Tsung, Eric F., Clouser, Christopher R., Duncan, Cisyla, Ichikawa, Jeffrey K., Lee, Clarence C., Zhang, Zheng, Ranade, Swati S., Dimalanta, Eileen T., Hyland, Fiona C., Sokolsky, Tanya D., Zhang, Lei, Sheridan, Andrew, Fu, Haoning, Hendrickson, Cynthia L., Li, Bin, Kotler, Lev, Stuart, Jeremy R., Malek, Joel A., Manning, Jonathan M., Antipova, Alena A., Perez, Damon S., Moore, Michael P., Hayashibara, Kathleen C., Lyons, Michael R., Beaudoin, Robert E., Coleman, Brittany E., Laptewicz, Michael W., Sannicandro, Adam E., Rhodes, Michael D., Gottimukkala, Rajesh K., Yang, Shan, Bafna, Vineet, Bashir, Ali, MacBride, Andrew, Alkan, Can, Kidd, Jeffrey M., Eichler, Evan E., Reese, Martin G., De La Vega, Francisco M., Blanchard, Alan P.

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An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases 由 Owen, Mallory J., Lefebvre, Sebastien, Hansen, Christian, Kunard, Chris M., Dimmock, David P., Smith, Laurie D., Scharer, Gunter, Mardach, Rebecca, Willis, Mary J., Feigenbaum, Annette, Niemi, Anna-Kaisa, Ding, Yan, Van Der Kraan, Luca, Ellsworth, Katarzyna, Guidugli, Lucia, Lajoie, Bryan R., McPhail, Timothy K., Mehtalia, Shyamal S., Chau, Kevin K., Kwon, Yong H., Zhu, Zhanyang, Batalov, Sergey, Chowdhury, Shimul, Rego, Seema, Perry, James, Speziale, Mark, Nespeca, Mark, Wright, Meredith S., Reese, Martin G., De La Vega, Francisco M., Azure, Joe, Frise, Erwin, Rigby, Charlene Son, White, Sandy, Hobbs, Charlotte A., Gilmer, Sheldon, Knight, Gail, Oriol, Albert, Lenberg, Jerica, Nahas, Shareef A., Perofsky, Kate, Kim, Kyu, Carroll, Jeanne, Coufal, Nicole G., Sanford, Erica, Wigby, Kristen, Weir, Jacqueline, Thomson, Vicki S., Fraser, Louise, Lazare, Seka S., Shin, Yoon H., Grunenwald, Haiying, Lee, Richard, Jones, David, Tran, Duke, Gross, Andrew, Daigle, Patrick, Case, Anne, Lue, Marisa, Richardson, James A., Reynders, John, Defay, Thomas, Hall, Kevin P., Veeraraghavan, Narayanan, Kingsmore, Stephen F.

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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge 由 Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul IW, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard JH, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon, McBride, Kim L, Newsom, David, Pierson, Christopher R, Rakowsky, Alexander T, Maver, Aleš, Lovrečić, Luca, Palandačić, Anja, Peterlin, Borut, Torkamani, Ali, Wedell, Anna, Huss, Mikael, Alexeyenko, Andrey, Lindvall, Jessica M, Magnusson, Måns, Nilsson, Daniel, Stranneheim, Henrik, Taylan, Fulya, Gilissen, Christian, Hoischen, Alexander, van Bon, Bregje, Yntema, Helger, Nelen, Marcel, Zhang, Weidong, Sager, Jason, Zhang, Lu, Blair, Kathryn, Kural, Deniz, Cariaso, Michael, Lennon, Greg G, Javed, Asif, Agrawal, Saloni, Ng, Pauline C, Sandhu, Komal S, Krishna, Shuba, Veeramachaneni, Vamsi, Isakov, Ofer, Halperin, Eran, Friedman, Eitan, Shomron, Noam, Glusman, Gustavo, Roach, Jared C, Caballero, Juan, Cox, Hannah C, Mauldin, Denise, Ament, Seth A, Rowen, Lee, Richards, Daniel R, Lucas, F Anthony San, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Wang, Zhengyuan, Barrera, Jorge, Garcia-Lobo, Juan M, González-Lamuño, Domingo, Llorca, Javier, Rodriguez, Maria C, Varela, Ignacio, Reese, Martin G, De La Vega, Francisco M, Kiruluta, Edward, Cargill, Michele, Hart, Reece K, Sorenson, Jon M, Lyon, Gholson J, Stevenson, David A, Bray, Bruce E, Moore, Barry M, Eilbeck, Karen, Yandell, Mark, Zhao, Hongyu, Hou, Lin, Chen, Xiaowei, Yan, Xiting, Chen, Mengjie, Li, Cong, Yang, Can, Gunel, Murat, Li, Peining, Kong, Yong, Alexander, Austin C, Albertyn, Zayed I, Boycott, Kym M, Bulman, Dennis E, Gordon, Paul MK, Innes, A Micheil, Knoppers, Bartha M, Majewski, Jacek, Marshall, Christian R, Parboosingh, Jillian S, Sawyer, Sarah L, Samuels, Mark E, Schwartzentruber, Jeremy, Kohane, Isaac S, Margulies, David M

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