Search Results - "Koboldt, Dan"

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome by Locke, Devin, Conyers, Joshua, Hickenbotham, Matthew, Dooling, David, McGrath, Sean, Abbott, Rachel, Shannon, William D, Gordon, David, Zhao, Yu, Baty, Jack, Mardis, Elaine R, Glasscock, Jarret, Ding, Li, Link, Daniel C, Shi, Xiaoqi, Heath, Sharon, Tomasson, Michael H, Walter, Matthew J, Hillier, LaDeana W, Chinwalla, Asif, Wylie, Todd, Sander, Nathan, Ley, Timothy J, Abbott, Scott, Westervelt, Peter, Pohl, Craig, Hawkins, Amy, Graubert, Timothy A, Smith, Scott, Larson, David E, Wilson, Richard K, Cook, Lisa, Ries, Rhonda E, Payton, Jacqueline E, McLellan, Michael D, Chen, Ken, DiPersio, John F, Dunford-Shore, Brian H, Magrini, Vincent, Nagarajan, Rakesh, Koboldt, Dan C, Fulton, Lucinda, Watson, Mark, Ivanovich, Jennifer, Fulton, Bob, Miner, Tracie, Minx, Patrick, Osborne, John R

“…Acute myeloid leukaemia is a highly malignant haematopoietic tumour that affects about 13,000 adults in the United States each year. The treatment of this…”
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The functional spectrum of low-frequency coding variation by 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

“…Rare coding variants constitute an important class of human genetic variation, but are underrepresented in current databases that are based on small population…”
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The watcher in the vale by Koboldt, Dan

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Detection of Large Structural Variants Causing Inherited Retinal Diseases by Daiger, Stephen P, Sullivan, Lori S, Bowne, Sara J, Cadena, Elizabeth D, Koboldt, Dan, Bujakowska, Kinga M, Pierce, Eric A

“…Current application of next-generation sequencing (NGS) leads to detection of the underlying disease-causing gene and mutation or mutations in from 60% to 85%…”
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Adjusting Family Relatedness in Data-driven Burden Test of Rare Variants by Zhang, Qunyuan, Wang, Lihua, Koboldt, Dan, Boreki, Ingrid B., Province, Michael A.

“…ABSTRACT Family data represent a rich resource for detecting association between rare variants (RVs) and human traits. However, most RV association analysis…”
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Comprehensive Evaluation of MicroRNA Genes and Gene Expression Using Next Generation Sequencing in a Patient with Acute Myelogenous Leukemia by Ramsingh, Giridharan, Koboldt, Dan C, Fehniger, Todd A, Wylie, Todd, Magrini, Vincent, Trissal, Maria, Koul, Sunita, Chang, Li-Wei, Nagarajan, Rakesh, Ley, Timothy J., Mardis, Elaine, Link, Daniel C.

“…Abstract 271 MicroRNAs (miRNAs) are small non-coding RNAs that regulate gene expression and have been implicated in the pathogenesis of human cancer. Most…”
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DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome : Personal genomes by LEY, Timothy J, MARDIS, Elaine R, COOK, Lisa, ABBOTT, Rachel, LARSON, David E, KOBOLDT, Dan C, POHL, Craig, SMITH, Scott, HAWKINS, Amy, ABBOTT, Scott, LOCKE, Devin, HILLIER, Ladeana W, LI DING, MINER, Tracie, FULTON, Lucinda, MAGRINI, Vincent, WYLIE, Todd, GLASSCOCK, Jarret, CONYERS, Joshua, SANDER, Nathan, XIAOQI SHI, OSBORNE, John R, MINX, Patrick, FULTON, Bob, GORDON, David, CHINWALLA, Asif, YU ZHAO, RIES, Rhonda E, PAYTON, Jacqueline E, WESTERVELT, Peter, TOMASSON, Michael H, WATSON, Mark, BATY, Jack, IVANOVICH, Jennifer, MCLELLAN, Michael D, HEATH, Sharon, SHANNON, William D, NAGARAJAN, Rakesh, WALTER, Matthew J, LINK, Daniel C, GRAUBERT, Timothy A, DIPERSIO, John F, WILSON, Richard K, KEN CHEN, DOOLING, David, DUNFORD-SHORE, Brian H, MCGRATH, Sean, HICKENBOTHAM, Matthew

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