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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Detecting clinically actionable variants in the 3' exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene von Gould, Genevieve M, Grauman, Peter V, Theilmann, Mark R, Spurka, Lindsay, Wang, Irving E, Melroy, Laura M, Chin, Robert G, Hite, Dustin H, Chu, Clement S, Maguire, Jared R, Hogan, Gregory J, Muzzey, Dale

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Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment von Vysotskaia, Valentina S, Hogan, Gregory J, Gould, Genevieve M, Wang, Xin, Robertson, Alex D, Haas, Kevin R, Theilmann, Mark R, Spurka, Lindsay, Grauman, Peter V, Lai, Henry H, Jeon, Diana, Haliburton, Genevieve, Leggett, Matt, Chu, Clement S, Iori, Kevin, Maguire, Jared R, Ready, Kaylene, Evans, Eric A, Kang, Hyunseok P, Haque, Imran S

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Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing von Kang, Hyunseok P, Maguire, Jared R, Chu, Clement S, Haque, Imran S, Lai, Henry, Mar-Heyming, Rebecca, Ready, Kaylene, Vysotskaia, Valentina S, Evans, Eric A

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Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification von Hogan, Gregory J, Vysotskaia, Valentina S, Beauchamp, Kyle A, Seisenberger, Stefanie, Grauman, Peter V, Haas, Kevin R, Hong, Sun Hae, Jeon, Diana, Kash, Shera, Lai, Henry H, Melroy, Laura M, Theilmann, Mark R, Chu, Clement S, Iori, Kevin, Maguire, Jared R, Evans, Eric A, Haque, Imran S, Mar-Heyming, Rebecca, Kang, Hyunseok P, Muzzey, Dale

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A map of human genome variation from population-scale sequencing von Abecasis, Gonçalo R, Altshuler, David, Auton, Adam, Brooks, Lisa D, Durbin, Richard M, Gibbs, Richard A, Hurles, Matt E, McVean, Gil A

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Demographic history and rare allele sharing among human populations von Gravel, Simon, Henn, Brenna M, Gutenkunst, Ryan N, Indap, Amit R, Marth, Gabor T, Clark, Andrew G, Yu, Fuli, Gibbs, Richard A, Bustamante, Carlos D

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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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Mapping Copy Number Variation by Population Scale Genome Sequencing von Mills, Ryan Edward, Handsaker, Robert E, Korn, Joshua, Nemesh, James, Shi, Xinghua, Lee, Charles, McCarroll, Steven A, Altshuler, David Matthew, Gabriel, Stacey B, Lander, Eric Steven, Ambrogio, Lauren, Bloom, Toby, Cibulskis, Kristian, Fennell, Tim J, Jaffe, David B, Shefler, Erica, Sougnez, Carrie L, Daly, Mark Joseph, DePristo, Mark A, Ball, Aaron D, Banks, Eric, Browning, Brian L, Garimella, Kiran V, Grossman, Sharon Rachel, Hanna, Matt, Hartl, Chris, Kernytsky, Andrew M, Li, Heng, Maguire, Jared R, McKenna, Aaron, Philippakis, Anthony Andrew, Poplin, Ryan E, Price, Alkes, Rivas, Manuel A, Sabeti, Pardis Christine, Schaffner, Stephen, Shlyakhter, Ilya, Wilkinson, Jane

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A Map of Human Genome Variation from Population Scale Sequencing von Altshuler, David Matthew, Lander, Eric Steven, Ambrogio, Lauren, Bloom, Toby, Cibulskis, Kristian, Fennell, Tim J, Gabriel, Stacey B, Jaffe, David B, Shefler, Erica, Sougnez, Carrie L, Lee, Charles, Mills, Ryan Edward, Shi, Xinghua, Daly, Mark Joseph, DePristo, Mark A, Ball, Aaron D, Banks, Eric, Browning, Brian L, Garimella, Kiran V, Grossman, Sharon Rachel, Handsaker, Robert E, Hanna, Matt, Hartl, Chris, Kernytsky, Andrew M, Korn, Joshua M, Li, Heng, Maguire, Jared R, McCarroll, Steven A, Nemesh, James C, McKenna, Aaron, Philippakis, Anthony Andrew, Poplin, Ryan E, Price, Alkes, Rivas, Manuel A, Sabeti, Pardis Christine, Schaffner, Stephen, Shlyakhter, Ilya

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Method For Determining Genotypes in Regions of High Homology von EVANS, Eric A, ROBERTSON, Alexander D, MUZZEY, Dale E, MAGUIRE, Jared R

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SYSTEMS AND METHODS FOR IDENTIFYING AND QUANTIFYING GENE COPY NUMBER VARIATIONS von Evans, Eric A, Robertson, Alexander D, Maguire, Jared R

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SYSTEMS AND METHODS FOR IDENTIFYING AND QUANTIFYING GENE COPY NUMBER VARIATIONS von EVANS, Eric A, ROBERTSON, Alexander D, MAGUIRE, Jared R

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Method For Determining Genotypes in Regions of High Homology von MUZZEY DALE E, EVANS ERIC A, MAGUIRE JARED R, ROBERTSON ALEXANDER D

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Luminous Type II Short-Plateau Supernovae 2006Y, 2006ai, and 2016egz: A Transitional Class from Stripped Massive Red Supergiants von Hiramatsu, Daichi, Howell, D. Andrew, Moriya, Takashi J., Goldberg, Jared A., Hosseinzadeh, Griffin, Arcavi, Iair, Anderson, Joseph P., Gutiérrez, Claudia P., Burke, Jamison, McCully, Curtis, Valenti, Stefano, Galbany, Lluís, Fang, Qiliang, Maeda, Keiichi, Folatelli, Gastón, Hsiao, Eric Y., Morrell, Nidia I., Phillips, Mark M., Stritzinger, Maximilian D., Suntzeff, Nicholas B., Gromadzki, Mariusz, Maguire, Kate, Müller-Bravo, Tomás E., Young, David R.

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Macromolecular modeling and design in Rosetta: recent methods and frameworks von Leman, Julia Koehler, Weitzner, Brian D., Lewis, Steven M., Adolf-Bryfogle, Jared, Alam, Nawsad, Alford, Rebecca F., Aprahamian, Melanie, Baker, David, Barlow, Kyle A., Basanta, Benjamin, Bender, Brian J., Blacklock, Kristin, Bonet, Jaume, Boyken, Scott E., Bradley, Phil, Bystroff, Chris, Conway, Patrick, Cooper, Seth, Correia, Bruno E., Coventry, Brian, Das, Rhiju, DiMaio, Frank, Dsilva, Lorna, Dunbrack, Roland, Ford, Alexander S., Fu, Darwin Y., Geniesse, Caleb, Goldschmidt, Lukasz, Gowthaman, Ragul, Gray, Jeffrey J., Gront, Dominik, Guffy, Sharon, Huang, Po-Ssu, Jacobs, Tim M., Jeliazkov, Jeliazko R., Johnson, David K., Kappel, Kalli, Karanicolas, John, Khakzad, Hamed, Khar, Karen R., Khare, Sagar D., Khatib, Firas, Khramushin, Alisa, King, Indigo C., Kleffner, Robert, Koepnick, Brian, Kortemme, Tanja, Kuenze, Georg, Kuhlman, Brian, Kuroda, Daisuke, Labonte, Jason W., Lai, Jason K., Lapidoth, Gideon, Leaver-Fay, Andrew, Lindert, Steffen, Linsky, Thomas, London, Nir, Lubin, Joseph H., Lyskov, Sergey, Maguire, Jack, Malmström, Lars, Marcos, Enrique, Marcu, Orly, Marze, Nicholas A., Meiler, Jens, Moretti, Rocco, Mulligan, Vikram Khipple, Nerli, Santrupti, Norn, Christoffer, Ollikainen, Noah, Ovchinnikov, Sergey, Pacella, Michael S., Pan, Xingjie, Park, Hahnbeom, Pavlovicz, Ryan E., Pethe, Manasi, Pilla, Kala Bharath, Raveh, Barak, Renfrew, P. Douglas, Burman, Shourya S. Roy, Rubenstein, Aliza, Sauer, Marion F., Scheck, Andreas, Schief, William, Schueler-Furman, Ora, Sedan, Yuval, Sevy, Alexander M., Sgourakis, Nikolaos G., Shi, Lei, Siegel, Justin B., Silva, Daniel-Adriano, Smith, Shannon, Song, Yifan, Stein, Amelie, Szegedy, Maria, Teets, Frank D., Thyme, Summer B., Wang, Ray Yu-Ruei, Watkins, Andrew, Zimmerman, Lior

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Patterns and rates of exonic de novo mutations in autism spectrum disorders von Neale, Benjamin M., Kou, Yan, Liu, Li, Ma’ayan, Avi, Samocha, Kaitlin E., Sabo, Aniko, Lin, Chiao-Feng, Stevens, Christine, Wang, Li-San, Makarov, Vladimir, Polak, Paz, Yoon, Seungtai, Maguire, Jared, Crawford, Emily L., Campbell, Nicholas G., Geller, Evan T., Valladares, Otto, Schafer, Chad, Liu, Han, Zhao, Tuo, Cai, Guiqing, Lihm, Jayon, Dannenfelser, Ruth, Jabado, Omar, Peralta, Zuleyma, Nagaswamy, Uma, Muzny, Donna, Reid, Jeffrey G., Newsham, Irene, Wu, Yuanqing, Lewis, Lora, Han, Yi, Voight, Benjamin F., Lim, Elaine, Rossin, Elizabeth, Kirby, Andrew, Flannick, Jason, Fromer, Menachem, Shakir, Khalid, Fennell, Tim, Garimella, Kiran, Banks, Eric, Poplin, Ryan, Gabriel, Stacey, DePristo, Mark, Wimbish, Jack R., Boone, Braden E., Levy, Shawn E., Betancur, Catalina, Sunyaev, Shamil, Boerwinkle, Eric, Buxbaum, Joseph D., Cook Jr, Edwin H., Devlin, Bernie, Gibbs, Richard A., Roeder, Kathryn, Schellenberg, Gerard D., Sutcliffe, James S., Daly, Mark J.

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The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits von Voight, Benjamin F, Kang, Hyun Min, Ding, Jun, Palmer, Cameron D, Sidore, Carlo, Chines, Peter S, Burtt, Noël P, Fuchsberger, Christian, Li, Yanming, Erdmann, Jeanette, Frayling, Timothy M, Heid, Iris M, Jackson, Anne U, Johnson, Toby, Kilpeläinen, Tuomas O, Lindgren, Cecilia M, Morris, Andrew P, Prokopenko, Inga, Randall, Joshua C, Saxena, Richa, Soranzo, Nicole, Speliotes, Elizabeth K, Teslovich, Tanya M, Wheeler, Eleanor, Maguire, Jared, Parkin, Melissa, Potter, Simon, Rayner, N William, Robertson, Neil, Stirrups, Kathleen, Winckler, Wendy, Sanna, Serena, Mulas, Antonella, Nagaraja, Ramaiah, Cucca, Francesco, Barroso, Inês, Deloukas, Panos, Loos, Ruth J F, Kathiresan, Sekar, Munroe, Patricia B, Newton-Cheh, Christopher, Pfeufer, Arne, Samani, Nilesh J, Schunkert, Heribert, Hirschhorn, Joel N, Altshuler, David, McCarthy, Mark I, Abecasis, Gonçalo R, Boehnke, Michael

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Prevalence of Low-Frequency, Antiviral Resistance Variants in SARS-CoV-2 Isolates in Ontario, Canada, 2020-2023 von Sjaarda, Calvin P, Lau, Lynette, Simpson, Jared T, Fattouh, Ramzi, Biondi, Mia J, Maguire, Finlay, Campigotto, Aaron, Feng, Yujia, Tozer, Kyla, Wong, Henry, Sung, Wilson W L, Kim, Sean, Marshall, Christian R, Sheth, Prameet M, Kozak, Robert

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SARS-CoV-2 Illumina GeNome Assembly Line (SIGNAL), a Snakemate workflow for rapid and bulk analysis of Illumina sequencing of SARS-CoV-2 genomes von Nasir, Jalees A, Maguire, Finlay, Smith, Kendrick M, Panousis, Emily M, Baker, Sheridan J C, Aftanas, Patryk, Raphenya, Amogelang R, Alcock, Brian P, Maan, Hassaan, Knox, Natalie C, Banerjee, Arinjay, Mossman, Karen, Wang, Bo, Simpson, Jared T, Kozak, Robert A, Mubareka, Samira, McArthur, Andrew G

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