Search Results - "Casuga, Iris"

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes by Mefford, Heather C, Sharp, Andrew J, Baker, Carl, Itsara, Andy, Jiang, Zhaoshi, Buysse, Karen, Huang, Shuwen, Maloney, Viv K, Crolla, John A, Baralle, Diana, Collins, Amanda, Mercer, Catherine, Norga, Koen, de Ravel, Thomy, Devriendt, Koen, Bongers, Ernie M.H.F, de Leeuw, Nicole, Reardon, William, Gimelli, Giorgio, Gimelli, Stefania, Bena, Frederique, Hennekam, Raoul C, Male, Alison, Gaunt, Lorraine, Clayton-Smith, Jill, Simonic, Ingrid, Park, Soo Mi, Mehta, Sarju G, Nik-Zainal, Serena, Woods, C. Geoffrey, Firth, Helen V, Parkin, Georgina, Fichera, Marco, Reitano, Santina, Giudice, Mariangela Lo, Li, Kelly E, Casuga, Iris, Broomer, Adam, Conrad, Bernard, Schwerzmann, Markus, Räber, Lorenz, Gallati, Sabina, Striano, Pasquale, Coppola, Antonietta, Tolmie, John L, Tobias, Edward S, Lilley, Chris, Armengol, Lluis, Spysschaert, Yves, Verloo, Patrick, De Coene, Anja, Goossens, Linde, Mortier, Geert, Speleman, Frank, van Binsbergen, Ellen, Nelen, Marcel R, Hochstenbach, Ron, Poot, Martin, Gallagher, Louise, Gill, Michael, McClellan, Jon, King, Mary-Claire, Regan, Regina, Skinner, Cindy, Stevenson, Roger E, Antonarakis, Stylianos E, Chen, Caifu, Estivill, Xavier, Menten, Björn, Gribble, Susan, Schwartz, Charles E, Schwartz, Stuart, Sutcliffe, James S, Walsh, Tom, Knight, Samantha J.L, Sebat, Jonathan, Romano, Corrado, Veltman, Joris A, de Vries, Bert B.A, Vermeesch, Joris R, Barber, John C.K, Willatt, Lionel, Tassabehji, May, Eichler, Evan E

“…This study shows an association between a broad range of phenotypes and either deletion or duplication of a genomic segment at chromosome 1q21.1, suggesting a…”
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Abstract 2282: Rapid and accurate variant calling of FFPE samples with the genexus system by Casuga, Iris, Gioia, Jason, Au-Young, Janice, Chan, Frances, Huynh, Milton, Crowe, Michael

“…Abstract Next Generation Sequencing technology has enhanced oncology research by enabling the detection of relevant variants for clinical and drug discovery…”
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Abstract 1330: Scalable single-day workflows for variant calling with the Genexus Integrated Sequencer by Gioia, Jason, Casuga, Iris R., Chan, Frances, Commins, James, Conners, David, Kratzer, Marla, Seeger, Collyn, Yaccarino, David

“…Abstract The purpose of this study is to test the speed, scalability, and flexibility of variant detection with the Genexus Integrated Sequencer. This research…”
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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures by Eichler, Evan E, Sharp, Andrew J, Mefford, Heather C, Li, Kelly, Baker, Carl, Skinner, Cindy, Stevenson, Roger E, Schroer, Richard J, Novara, Francesca, De Gregori, Manuela, Ciccone, Roberto, Broomer, Adam, Casuga, Iris, Wang, Yu, Xiao, Chunlin, Barbacioru, Catalin, Gimelli, Giorgio, Bernardina, Bernardo Dalla, Torniero, Claudia, Giorda, Roberto, Regan, Regina, Murday, Victoria, Mansour, Sahar, Fichera, Marco, Castiglia, Lucia, Failla, Pinella, Ventura, Mario, Jiang, Zhaoshi, Cooper, Gregory M, Knight, Samantha J L, Romano, Corrado, Zuffardi, Orsetta, Chen, Caifu, Schwartz, Charles E

“…We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected…”
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Abstract 1701: Improvement of tumor mutation burden measurement by removal of deaminated bases in FFPE DNA by Tom, Warren, Chaudhary, Ruchi, Mittal, Vinay, Cyanam, Dinesh, Casuga, Iris, Wong-Ho, Elaine, Bennett, Rob, Hyland, Fiona, Sadis, Seth, Au-Young, Janice

“…Abstract Tumor mutation burden (TMB) is a positive predictive factor for response to immune-checkpoint inhibitors in certain types of cancer. The Oncomine™…”
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Abstract 2944: Rapid and accurate variant calling of FFPE samples with the Genexus System by Casuga, Iris, Chan, Frances, Huynh, Milton, Govoni, Gregory R., Zochowski, Kayla, Jayaweera, Thilanka, Au-Young, Janice

“…Abstract Next-Generation Sequencing technology has enhanced oncology research by enabling the detection of all cancer related variants into one assay for…”
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Abstract 2939: Automation meets reliability: Use of Oncomine࣪precision assay on the Genexus࣪system for accurate identification of cancer biomarkers in FFPE and liquid biopsy samples by Jayaweera, Thilanka, Siepert, Nicholas, Hradecky, Brian, Ostrowska, Emilia, Casuga, Iris, Lea, kristy, Kshatriya, Priyanka, Gu, Jian, Schageman, Jeff, Cao, Ru, Cheng, Angie, Bramlett, Kelli

“…Abstract Accurate and early detection of oncogenic markers may one day be the key to fighting cancer. However, with complex workflows, long turnaround times,…”
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Abstract 764: Fully automated sample-to-report NGS workflow for comprehensive genomic profiling for myeloid neoplasms by Sedova, Marina, Ongpin, Alexy, Burke, Jennifer, Seeger, Collyn, Brozio, Sarah, Au-Young, Janice, Huang, Jiajie, Jayaweera, Thilanka, Casuga, Iris, Huynh, Milton, Hyland, Fiona

“…Abstract Introduction: Myeloid malignancies are associated with a broad and diverse set of genomic alterations, including SNVs, insertions, deletions and gene…”
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Abstract 42: High-throughput next-generation sequencing research solutions for detection of oncology variants, gene fusion events, and key oncology endpoints by Zochowski, Kayla, Cyanam, Dinesh, Lowman, Geoffrey, Kilzer, Jennifer, El-Difrawy, Sameh, Zhu, Yan, Puranik, Tanaya, Phan, Alex, Wong, Derek, Kwong, Edith, Nemes, Coleen, Casuga, Iris, Chan, Frances, Kim, Eun Ji, Guo, Jianjun, Mittal, Vinay, Norris, Emily, Sarda, Shrutii, Gupta, Mohit, Shen, Fan, Roman, Steven, Vargas, Gabriel, Jin, Ying, Kraltcheva, Annie, Williams, Paul, Gulati, Amneet, Rigby, Justin, Hoff, Christopher, Meade, Richard, Wong-Ho, Elaine, Wong, Andrew, Ghadiri, Jamsheed, Garcia-Viramontes, David, Myrand, Scott, Sadis, Seth

“…Abstract Introduction: The Ion Torrent Genexus System has redefined the genomic profiling paradigm as the first fully-integrated, next-generation sequencing…”
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Abstract 4218: Validation of the Ion AmpliSeq™ Comprehensive Cancer Panel (CCP) using castPCR™ technologies by Li, Kelly, Woo, Cora, Mouanoutoua, Mokang, Moy, Bonnie, Langit, Emanuel, Brzoska, Pius, You, Xiaoqing, Desai, Sejal, Keys, David, Stevens, Junko, Kong, Benjamin, Shannon, Mark, Chen, Shiaw-Min, Ruff, David, Li, Chieh-Yuan, Joun, David, Casuga, Iris, Bennett, Robert

“…Abstract Somatic mutation has been implicated in many aspects of cancer such as susceptibility, diagnosis, prognosis, drug response and tumor progress…”
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Abstract 3071: Accurate and sensitive detection of KRAS mutations in heterogeneous cancer specimens by Bao, Yun, Merrill, David, Corre, Delphine Le, Sproul, Scott, Ching, Bonnie, Casuga, Iris, Sapinoso, Lorenzo, Desai, Sejal, Petraroli, Rosella P., Deng, David, Brzoska, Pius, Blons, Helene, Laurent-Puig, Pierre, Chen, Caifu

“…Abstract The discovery of pivotal genetic alterations and the understanding of their role in cancer is leading to remarkable successes in therapeutics and…”
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A recurrent 15ql3.3 microdeletion syndrome associated with mental retardation and seizures by SHARP, Andrew J, MEFFORD, Heather C, BROOMER, Adam, CASUGA, Iris, YU WANG, CHUNLIN XIAO, BARBACIORU, Catalin, GIMELLI, Giorgio, DALLA BERNARDINA, Bernardo, TORNIERO, Claudia, GIORDA, Roberto, REGAN, Regina, LI, Kelly, MURDAY, Victoria, MANSOUR, Sahar, FICHERA, Marco, CASTIGLIA, Lucia, FAIFLA, Pinella, VENTURA, Mario, ZHAOSHI JIANG, COOPER, Gregory M, KNIGHT, Samantha J. L, ROMANO, Corrado, BAKER, Carl, ZUFFARDI, Orsetta, CAIFU CHEN, SCHWARTZ, Charles E, EICHLER, Evan E, SKINNER, Cindy, STEVENSON, Roger E, SCHROER, Richard J, NOVARA, Francesca, DE GREGORI, Manuela, CICCONE, Roberto

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