Detecting False Positive Variant Calls In Next-Generation Sequencing von DePristo, Mark Andrew, Poplin, Ryan

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Detecting false positive variant calls in next-generation sequencing von DePristo, Mark Andrew, Poplin, Ryan

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Deep learning analysis pipeline for next generation sequencing von DePristo, Mark Andrew, Poplin, Ryan

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PROCESSING BIOLOGICAL SEQUENCES USING NEURAL NETWORKS von Busia, Akosua Pokua, DePristo, Mark Andrew, Dahl, George Edward

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PREDICTING BIOLOGICAL FUNCTIONS OF PROTEINS USING DILATED CONVOLUTIONAL NEURAL NETWORKS von Sanderson, Theodore, Colwell, Lucy, DePristo, Mark Andrew, Bileschi, Maxwell, Bryant, Drew, Carter, Brandon, Belanger, David Benjamin, Smith, Jamie Alexander

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PREDICTING BIOLOGICAL FUNCTIONS OF PROTEINS USING DILATED CONVOLUTIONAL NEURAL NETWORKS von COLWELL, Lucy, SANDERSON, Theodore, SMITH, Jamie Alexander, DEPRISTO, Mark Andrew, CARTER, Brandon, BELANGER, David Benjamin, BRYANT, Drew, BILESCHI, Maxwell

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Likelihood Ratios for Out-of-Distribution Detection von Lakshminarayanan, Balaji, DePristo, Mark Andrew, Liu, Peter Junteng, Poplin, Ryan, Ren, Jie, Dillon, Joshua Vincent, Snoek, Roland Jasper, Fertig, Emily Amanda

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LIKELIHOOD RATIOS FOR OUT-OF-DISTRIBUTION DETECTION von REN, Jie, DEPRISTO, Mark Andrew, FERTIG, Emily Amanda, DILLON, Joshua Vincent, SNOEK, Roland Jasper, POPLIN, Ryan, LAKSHMINARAYANAN, Balaji, LIU, Peter Junteng

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PREDICTING BIOLOGICAL FUNCTIONS OF PROTEINS USING DILATED CONVOLUTIONAL NEURAL NETWORKS von COLWELL, Lucy, SANDERSON, Theodore, SMITH, Jamie Alexander, DEPRISTO, Mark Andrew, CARTER, Brandon, BELANGER, David Benjamin, BRYANT, Drew, BILESCHI, Maxwell

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LIKELIHOOD RATIOS FOR OUT-OF-DISTRIBUTION DETECTION von REN, Jie, DEPRISTO, Mark Andrew, FERTIG, Emily Amanda, DILLON, Joshua Vincent, SNOEK, Roland Jasper, POPLIN, Ryan, LAKSHMINARAYANAN, Balaji, LIU, Peter Junteng

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Likelihood ratio for out-of-distribution detection von REN JIE, DEPRISTO MARK ANDREW, FERTIG, EMILIE, AMANDA, LAKSHMINARAYANAN, BALAJI, SNOECK ROLAND JASPER, LIU PETER JUNTENG, DILLON JOSHUA VINCENT, POPLAN, RYAN

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A framework for variation discovery and genotyping using next-generation DNA sequencing data von DePristo, Mark A, Banks, Eric, Poplin, Ryan, Garimella, Kiran V, Maguire, Jared R, Hartl, Christopher, Philippakis, Anthony A, del Angel, Guillermo, Rivas, Manuel A, Hanna, Matt, McKenna, Aaron, Fennell, Tim J, Kernytsky, Andrew M, Sivachenko, Andrey Y, Cibulskis, Kristian, Gabriel, Stacey B, Altshuler, David, Daly, Mark J

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The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data von McKenna, Aaron, Hanna, Matthew, Banks, Eric, Sivachenko, Andrey, Cibulskis, Kristian, Kernytsky, Andrew, Garimella, Kiran, Altshuler, David, Gabriel, Stacey, Daly, Mark, DePristo, Mark A

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Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome von Wenger, Aaron M., Peluso, Paul, Rowell, William J., Chang, Pi-Chuan, Hall, Richard J., Concepcion, Gregory T., Ebler, Jana, Fungtammasan, Arkarachai, Kolesnikov, Alexey, Olson, Nathan D., Töpfer, Armin, Alonge, Michael, Mahmoud, Medhat, Qian, Yufeng, Chin, Chen-Shan, Phillippy, Adam M., Schatz, Michael C., Myers, Gene, DePristo, Mark A., Ruan, Jue, Marschall, Tobias, Sedlazeck, Fritz J., Zook, Justin M., Li, Heng, Koren, Sergey, Carroll, Andrew, Rank, David R., Hunkapiller, Michael W.

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A framework for the interpretation of de novo mutation in human disease von Samocha, Kaitlin E, Robinson, Elise B, Sanders, Stephan J, Stevens, Christine, Sabo, Aniko, McGrath, Lauren M, Kosmicki, Jack A, Rehnström, Karola, Mallick, Swapan, Kirby, Andrew, Wall, Dennis P, MacArthur, Daniel G, Gabriel, Stacey B, DePristo, Mark, Purcell, Shaun M, Palotie, Aarno, Boerwinkle, Eric, Buxbaum, Joseph D, Cook, Edwin H, Gibbs, Richard A, Schellenberg, Gerard D, Sutcliffe, James S, Devlin, Bernie, Roeder, Kathryn, Neale, Benjamin M, Daly, Mark J

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Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia von Musunuru, Kiran, Pirruccello, James P, Do, Ron, Peloso, Gina M, Guiducci, Candace, Sougnez, Carrie, Garimella, Kiran V, Fisher, Sheila, Abreu, Justin, Barry, Andrew J, Fennell, Tim, Banks, Eric, Ambrogio, Lauren, Cibulskis, Kristian, Kernytsky, Andrew, Gonzalez, Elena, Rudzicz, Nicholas, Engert, James C, DePristo, Mark A, Daly, Mark J, Cohen, Jonathan C, Hobbs, Helen H, Altshuler, David, Schonfeld, Gustav, Gabriel, Stacey B, Yue, Pin, Kathiresan, Sekar

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Variation in genome-wide mutation rates within and between human families von CONRAD, Donald F, KEEBLER, Jonathan E. M, ZILVERSMIT, Martine, CARTWRIGHT, Reed, ROULEAU, Guy A, DALY, Mark, STONE, Eric A, HURLES, Matthew E, AWADALLA, Philip, DEPRISTO, Mark A, LINDSAY, Sarah J, YUJUN ZHANG, CASALS, Ferran, IDAGHDOUR, Youssef, HARTL, Chris L, TORROJA, Carlos, GARIMELLA, Kiran V

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Analysis of protein-coding genetic variation in 60,706 humans von Lek, Monkol, Karczewski, Konrad J., Minikel, Eric V., Samocha, Kaitlin E., Banks, Eric, Fennell, Timothy, O’Donnell-Luria, Anne H., Ware, James S., Hill, Andrew J., Cummings, Beryl B., Tukiainen, Taru, Birnbaum, Daniel P., Kosmicki, Jack A., Duncan, Laramie E., Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David N., Deflaux, Nicole, DePristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja I., Moonshine, Ami Levy, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina M., Poplin, Ryan, Rivas, Manuel A., Ruano-Rubio, Valentin, Rose, Samuel A., Ruderfer, Douglas M., Shakir, Khalid, Stenson, Peter D., Stevens, Christine, Thomas, Brett P., Tiao, Grace, Tusie-Luna, Maria T., Weisburd, Ben, Won, Hong-Hee, Yu, Dongmei, Altshuler, David M., Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua, Roberto, Florez, Jose C., Gabriel, Stacey B., Getz, Gad, Glatt, Stephen J., Hultman, Christina M., Kathiresan, Sekar, Laakso, Markku, McCarroll, Steven, McCarthy, Mark I., McGovern, Dermot, McPherson, Ruth, Neale, Benjamin M., Palotie, Aarno, Purcell, Shaun M., Saleheen, Danish, Scharf, Jeremiah M., Sklar, Pamela, Sullivan, Patrick F., Tuomilehto, Jaakko, Tsuang, Ming T., Watkins, Hugh C., Wilson, James G., Daly, Mark J., MacArthur, Daniel G.

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Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders von Lim, Elaine T., Raychaudhuri, Soumya, Sanders, Stephan J., Stevens, Christine, Sabo, Aniko, MacArthur, Daniel G., Neale, Benjamin M., Kirby, Andrew, Ruderfer, Douglas M., Fromer, Menachem, Lek, Monkol, Liu, Li, Flannick, Jason, Ripke, Stephan, Nagaswamy, Uma, Muzny, Donna, Reid, Jeffrey G., Hawes, Alicia, Newsham, Irene, Wu, Yuanqing, Lewis, Lora, Dinh, Huyen, Gross, Shannon, Wang, Li-San, Lin, Chiao-Feng, Valladares, Otto, Gabriel, Stacey B., dePristo, Mark, Altshuler, David M., Purcell, Shaun M., State, Matthew W., Boerwinkle, Eric, Buxbaum, Joseph D., Cook, Edwin H., Gibbs, Richard A., Schellenberg, Gerard D., Sutcliffe, James S., Devlin, Bernie, Roeder, Kathryn, Daly, Mark J.

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The functional spectrum of low-frequency coding variation von Marth, Gabor T, Yu, Fuli, Indap, Amit R, Garimella, Kiran, Gravel, Simon, Leong, Wen Fung, Tyler-Smith, Chris, Bainbridge, Matthew, Blackwell, Tom, Zheng-Bradley, Xiangqun, Chen, Yuan, Challis, Danny, Clarke, Laura, Ball, Edward V, Cibulskis, Kristian, Cooper, David N, Fulton, Bob, Hartl, Chris, Koboldt, Dan, Muzny, Donna, Smith, Richard, Sougnez, Carrie, Stewart, Chip, Ward, Alistair, Yu, Jin, Xue, Yali, Altshuler, David, Bustamante, Carlos D, Clark, Andrew G, Daly, Mark, DePristo, Mark, Flicek, Paul, Gabriel, Stacey, Mardis, Elaine, Palotie, Aarno, Gibbs, Richard

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