Artículos de revistas sobre el tema "EXOME SEQUENCING DATA"
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Liu, Pengfei, Linyan Meng, Elizabeth A. Normand, Fan Xia, Xiaofei Song, Andrew Ghazi, Jill Rosenfeld et al. "Reanalysis of Clinical Exome Sequencing Data". New England Journal of Medicine 380, n.º 25 (20 de junio de 2019): 2478–80. http://dx.doi.org/10.1056/nejmc1812033.
Texto completoGonsalves, Stephen G., David Ng, Jennifer J. Johnston, Jamie K. Teer, Peter D. Stenson, David N. Cooper, James C. Mullikin y Leslie G. Biesecker. "Using Exome Data to Identify Malignant Hyperthermia Susceptibility Mutations". Anesthesiology 119, n.º 5 (1 de noviembre de 2013): 1043–53. http://dx.doi.org/10.1097/aln.0b013e3182a8a8e7.
Texto completoHatzis, C. "Bioinformatics analysis pipeline for exome sequencing data". AACR Education book 2014, n.º 1 (4 de abril de 2014): 131–34. http://dx.doi.org/10.1158/aacr.edb-14-6406.
Texto completoDe Filippo, MR, G. Giurato, C. Cantarella, F. Rizzo, F. Cirillo y A. Weisz. "Development of pipeline for exome sequencing data analysis". EMBnet.journal 18, A (29 de abril de 2012): 98. http://dx.doi.org/10.14806/ej.18.a.438.
Texto completoRomanel, Alessandro, Tuo Zhang, Olivier Elemento y Francesca Demichelis. "EthSEQ: ethnicity annotation from whole exome sequencing data". Bioinformatics 33, n.º 15 (27 de marzo de 2017): 2402–4. http://dx.doi.org/10.1093/bioinformatics/btx165.
Texto completoMeng, Jia, Xiaodong Cui, Manjeet K. Rao, Yidong Chen y Yufei Huang. "Exome-based analysis for RNA epigenome sequencing data". Bioinformatics 29, n.º 12 (14 de abril de 2013): 1565–67. http://dx.doi.org/10.1093/bioinformatics/btt171.
Texto completoSamuels, David C., Leng Han, Jiang Li, Sheng Quanghu, Travis A. Clark, Yu Shyr y Yan Guo. "Finding the lost treasures in exome sequencing data". Trends in Genetics 29, n.º 10 (octubre de 2013): 593–99. http://dx.doi.org/10.1016/j.tig.2013.07.006.
Texto completoVosberg, Sebastian, Luise Hartmann, Stephanie Schneider, Klaus H. Metzeler, Bianka Ksienzyk, Kathrin Bräundl, Martin Neumann et al. "Detection of Chromosomal Aberrations in Acute Myeloid Leukemia By Copy Number Alteration Analysis of Exome Sequencing Data". Blood 126, n.º 23 (3 de diciembre de 2015): 3859. http://dx.doi.org/10.1182/blood.v126.23.3859.3859.
Texto completoHintzsche, Jennifer D., William A. Robinson y Aik Choon Tan. "A Survey of Computational Tools to Analyze and Interpret Whole Exome Sequencing Data". International Journal of Genomics 2016 (2016): 1–16. http://dx.doi.org/10.1155/2016/7983236.
Texto completoValdés-Mas, Rafael, Silvia Bea, Diana A. Puente, Carlos López-Otín y Xose S. Puente. "Estimation of Copy Number Alterations from Exome Sequencing Data". PLoS ONE 7, n.º 12 (19 de diciembre de 2012): e51422. http://dx.doi.org/10.1371/journal.pone.0051422.
Texto completoBalabanski, Lubomir, Dimitar Serbezov, Dragomira Nikolova, Olga Antonova, Desislava Nesheva, Zora Hammoudeh, Radoslava Vazharova et al. "Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations". Technology in Cancer Research & Treatment 19 (1 de enero de 2020): 153303382091108. http://dx.doi.org/10.1177/1533033820911082.
Texto completoLiaudanski, A. D., R. S. Shulinski, Y. A. Mishuk y L. N. Sivitskaya. "COMPARISON OF GENOTYPE PHASING METODS FOR THE HIGH THROUGHPUT SEQUENCING DATA OF CLINICAL EXOMES". Молекулярная и прикладная генетика 31 (8 de diciembre de 2021): 114–23. http://dx.doi.org/10.47612/1999-9127-2021-31-114-123.
Texto completoKurt Çolak, Fatma. "Clinically significant exome-based copy number variants detected by re-evaluation of exome sequencing data". Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi 35, n.º 1 (2021): 1–11. http://dx.doi.org/10.5505/deutfd.2021.29053.
Texto completoTan, Renjie, Jixuan Wang, Xiaoliang Wu, Liran Juan, Tianjiao Zhang, Rui Ma, Qing Zhan et al. "ERDS-Exome: A Hybrid Approach for Copy Number Variant Detection from Whole-Exome Sequencing Data". IEEE/ACM Transactions on Computational Biology and Bioinformatics 17, n.º 3 (1 de mayo de 2020): 796–803. http://dx.doi.org/10.1109/tcbb.2017.2758779.
Texto completoKim, Jerry H., Gail P. Jarvik, Brian L. Browning, Ramakrishnan Rajagopalan, Adam S. Gordon, Mark J. Rieder, Peggy D. Robertson, Deborah A. Nickerson, Nickla A. Fisher y Philip M. Hopkins. "Exome Sequencing Reveals Novel Rare Variants in the Ryanodine Receptor and Calcium Channel Genes in Malignant Hyperthermia Families". Anesthesiology 119, n.º 5 (1 de noviembre de 2013): 1054–65. http://dx.doi.org/10.1097/aln.0b013e3182a8a998.
Texto completoMiyatake, Satoko, Eriko Koshimizu, Atsushi Fujita, Ryoko Fukai, Eri Imagawa, Chihiro Ohba, Ichiro Kuki et al. "Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach". Journal of Human Genetics 60, n.º 4 (22 de enero de 2015): 175–82. http://dx.doi.org/10.1038/jhg.2014.124.
Texto completoGuo, Yan, Jirong Long, Jing He, Chung-I. Li, Qiuyin Cai, Xiao-Ou Shu, Wei Zheng y Chun Li. "Exome sequencing generates high quality data in non-target regions". BMC Genomics 13, n.º 1 (2012): 194. http://dx.doi.org/10.1186/1471-2164-13-194.
Texto completoGazal, Steven, Simon Gosset, Edgard Verdura, Françoise Bergametti, Stéphanie Guey, Marie-Claude Babron y Elisabeth Tournier-Lasserve. "Can whole-exome sequencing data be used for linkage analysis?" European Journal of Human Genetics 24, n.º 4 (15 de julio de 2015): 581–86. http://dx.doi.org/10.1038/ejhg.2015.143.
Texto completoMagi, Alberto, Lorenzo Tattini, Ingrid Cifola, Romina D’Aurizio, Matteo Benelli, Eleonora Mangano, Cristina Battaglia et al. "EXCAVATOR: detecting copy number variants from whole-exome sequencing data". Genome Biology 14, n.º 10 (2013): R120. http://dx.doi.org/10.1186/gb-2013-14-10-r120.
Texto completoOh, Sehyun, Ludwig Geistlinger, Marcel Ramos, Martin Morgan, Levi Waldron y Markus Riester. "Reliable Analysis of Clinical Tumor-Only Whole-Exome Sequencing Data". JCO Clinical Cancer Informatics, n.º 4 (septiembre de 2020): 321–35. http://dx.doi.org/10.1200/cci.19.00130.
Texto completoCendes, Lucas L., Welliton de Souza, Iscia Lopes-Cendes y Benilton S. Carvalho. "HPexome: An automated tool for processing whole-exome sequencing data". SoftwareX 11 (enero de 2020): 100478. http://dx.doi.org/10.1016/j.softx.2020.100478.
Texto completoFu, Wenqing, Sharon R. Browning, Brian L. Browning y Joshua M. Akey. "Robust Inference of Identity by Descent from Exome-Sequencing Data". American Journal of Human Genetics 99, n.º 5 (noviembre de 2016): 1106–16. http://dx.doi.org/10.1016/j.ajhg.2016.09.011.
Texto completoGarret, Philippine, Céline Bris, Vincent Procaccio, Patrizia Amati‐Bonneau, Pierre Vabres, Nada Houcinat, Emilie Tisserant et al. "Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light". Human Mutation 40, n.º 12 (26 de agosto de 2019): 2430–43. http://dx.doi.org/10.1002/humu.23885.
Texto completoChong, Irene Y., Naureen Starling, Alistair Rust, John Alexander, Lauren Aronson, Marta Llorca-Cardenosa, Ritika Chauhan et al. "The Mutational Concordance of Fixed Formalin Paraffin Embedded and Fresh Frozen Gastro-Oesophageal Tumours Using Whole Exome Sequencing". Journal of Clinical Medicine 10, n.º 2 (9 de enero de 2021): 215. http://dx.doi.org/10.3390/jcm10020215.
Texto completoChong, Irene Y., Naureen Starling, Alistair Rust, John Alexander, Lauren Aronson, Marta Llorca-Cardenosa, Ritika Chauhan et al. "The Mutational Concordance of Fixed Formalin Paraffin Embedded and Fresh Frozen Gastro-Oesophageal Tumours Using Whole Exome Sequencing". Journal of Clinical Medicine 10, n.º 2 (9 de enero de 2021): 215. http://dx.doi.org/10.3390/jcm10020215.
Texto completoGuo, Yan, Quanghu Sheng, David C. Samuels, Brian Lehmann, Joshua A. Bauer, Jennifer Pietenpol y Yu Shyr. "Comparative Study of Exome Copy Number Variation Estimation Tools Using Array Comparative Genomic Hybridization as Control". BioMed Research International 2013 (2013): 1–7. http://dx.doi.org/10.1155/2013/915636.
Texto completoGajapathy, Manavalan, Brandon Wilk, Donna Brown y Elizabeth Worthey. "eP350: QuaC: Implementing quality control best practices for genome sequencing and exome sequencing data". Genetics in Medicine 24, n.º 3 (marzo de 2022): S219—S220. http://dx.doi.org/10.1016/j.gim.2022.01.385.
Texto completoKarasaki, Takahiro, Kazuhiro Nagayama, Hideki Kuwano, Jun-ichi Nitadori, Masaaki Sato, Masaki Anraku, Akihiro Hosoi et al. "Prediction and prioritization of neoantigens: integration of RNA sequencing data with whole-exome sequencing". Cancer Science 108, n.º 2 (febrero de 2017): 170–77. http://dx.doi.org/10.1111/cas.13131.
Texto completoMizrahi-Man, Orna, Marcos H. Woehrmann, Teresa A. Webster, Jeremy Gollub, Adrian Bivol, Sara M. Keeble, Katherine H. Aull et al. "Novel genotyping algorithms for rare variants significantly improve the accuracy of Applied Biosystems™ Axiom™ array genotyping calls: Retrospective evaluation of UK Biobank array data". PLOS ONE 17, n.º 11 (17 de noviembre de 2022): e0277680. http://dx.doi.org/10.1371/journal.pone.0277680.
Texto completoJang, Bum-Sup y In Ah Kim. "Machine-learning algorithms predict breast cancer patient survival from UK Biobank whole-exome sequencing data". Biomarkers in Medicine 15, n.º 16 (noviembre de 2021): 1529–39. http://dx.doi.org/10.2217/bmm-2021-0280.
Texto completoGlotov, Oleg S., Alexander N. Chernov y Andrey S. Glotov. "Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience". Journal of Personalized Medicine 13, n.º 8 (8 de agosto de 2023): 1236. http://dx.doi.org/10.3390/jpm13081236.
Texto completoPark, Jason Y., Peter Clark, Eric Londin, Marialuisa Sponziello, Larry J. Kricka y Paolo Fortina. "Clinical Exome Performance for Reporting Secondary Genetic Findings". Clinical Chemistry 61, n.º 1 (1 de enero de 2015): 213–20. http://dx.doi.org/10.1373/clinchem.2014.231456.
Texto completoLaver, Thomas W., Elisa De Franco, Matthew B. Johnson, Kashyap A. Patel, Sian Ellard, Michael N. Weedon, Sarah E. Flanagan y Matthew N. Wakeling. "SavvyCNV: Genome-wide CNV calling from off-target reads". PLOS Computational Biology 18, n.º 3 (16 de marzo de 2022): e1009940. http://dx.doi.org/10.1371/journal.pcbi.1009940.
Texto completoHegde, Madhuri, Avni Santani, Rong Mao, Andrea Ferreira-Gonzalez, Karen E. Weck y Karl V. Voelkerding. "Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease". Archives of Pathology & Laboratory Medicine 141, n.º 6 (31 de marzo de 2017): 798–805. http://dx.doi.org/10.5858/arpa.2016-0622-ra.
Texto completoParsons, Donald W., Murali M. Chintagumpala, Stacey L. Berg, Dolores H. López-Terrada, Angshumoy Roy, Robin A. Kerstein, Sarah Scollon et al. "Implementation and evaluation of clinical exome sequencing in childhood cancer care: The BASIC3 study." Journal of Clinical Oncology 31, n.º 15_suppl (20 de mayo de 2013): 10023. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.10023.
Texto completoLu, Peng, Pengyun Wang, Lianbing Li, Chengqi Xu, Jing Crystal Liu, Xiangqian Guo, Dawei He, Huizhe Huang y Zhi Cheng. "Exomic and Epigenomic Analyses in a Pair of Monozygotic Twins Discordant for Cryptorchidism". Twin Research and Human Genetics 20, n.º 4 (13 de junio de 2017): 349–54. http://dx.doi.org/10.1017/thg.2017.33.
Texto completoYauy, Kevin, Charles Van Goethem, Henri Pégeot, David Baux, Thomas Guignard, Corinne Thèze, Olivier Ardouin et al. "Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories". International Journal of Molecular Sciences 24, n.º 8 (15 de abril de 2023): 7330. http://dx.doi.org/10.3390/ijms24087330.
Texto completoVerrou, Kleio-Maria, Georgios A. Pavlopoulos y Panagiotis Moulos. "Protocol for unbiased, consolidated variant calling from whole exome sequencing data". STAR Protocols 3, n.º 2 (junio de 2022): 101418. http://dx.doi.org/10.1016/j.xpro.2022.101418.
Texto completoYauy, Kevin, Nicole de Leeuw, Helger G. Yntema, Rolph Pfundt y Christian Gilissen. "Accurate detection of clinically relevant uniparental disomy from exome sequencing data". Genetics in Medicine 22, n.º 4 (26 de noviembre de 2019): 803–8. http://dx.doi.org/10.1038/s41436-019-0704-x.
Texto completoBackenroth, Daniel, Jason Homsy, Laura R. Murillo, Joe Glessner, Edwin Lin, Martina Brueckner, Richard Lifton, Elizabeth Goldmuntz, Wendy K. Chung y Yufeng Shen. "CANOES: detecting rare copy number variants from whole exome sequencing data". Nucleic Acids Research 42, n.º 12 (25 de abril de 2014): e97-e97. http://dx.doi.org/10.1093/nar/gku345.
Texto completoKim, Bo-Young, Jung Hoon Park, Hye-Yeong Jo, Soo Kyung Koo y Mi-Hyun Park. "Optimized detection of insertions/deletions (INDELs) in whole-exome sequencing data". PLOS ONE 12, n.º 8 (9 de agosto de 2017): e0182272. http://dx.doi.org/10.1371/journal.pone.0182272.
Texto completoGuo, Yan, Shilin Zhao, Quanhu Sheng, Fei Ye, Jiang Li, Brian Lehmann, Jennifer Pietenpol, David C. Samuels y Yu Shyr. "Multi-perspective quality control of Illumina exome sequencing data using QC3". Genomics 103, n.º 5-6 (mayo de 2014): 323–28. http://dx.doi.org/10.1016/j.ygeno.2014.03.006.
Texto completoKim, Sung Min, Seong Yeon Yoo, Soo Hyun Nam, Jae Moon Lee y Ki Wha Chung. "Identification of Korean-specific SNP markers from whole-exome sequencing data". International Journal of Legal Medicine 130, n.º 3 (9 de febrero de 2016): 669–77. http://dx.doi.org/10.1007/s00414-015-1313-0.
Texto completoOesper, Layla, Gryte Satas y Benjamin J. Raphael. "Quantifying tumor heterogeneity in whole-genome and whole-exome sequencing data". Bioinformatics 30, n.º 24 (8 de octubre de 2014): 3532–40. http://dx.doi.org/10.1093/bioinformatics/btu651.
Texto completoMagi, Alberto. "H3M2: Detection of runs of homozygosity from whole-exome sequencing data". Journal of Biotechnology 185 (septiembre de 2014): S15. http://dx.doi.org/10.1016/j.jbiotec.2014.07.053.
Texto completoLarson, Nicholas B. y Daniel J. Schaid. "Regularized Rare Variant Enrichment Analysis for Case-Control Exome Sequencing Data". Genetic Epidemiology 38, n.º 2 (30 de diciembre de 2013): 104–13. http://dx.doi.org/10.1002/gepi.21783.
Texto completoNishino, Jo, Shuichi Watanabe, Fuyuki Miya, Takashi Kamatani, Toshitaka Sugawara, Keith A. Boroevich y Tatsuhiko Tsunoda. "Quantification of multicellular colonization in tumor metastasis using exome‐sequencing data". International Journal of Cancer 146, n.º 9 (15 de febrero de 2020): 2488–97. http://dx.doi.org/10.1002/ijc.32910.
Texto completoTbeileh, Noura, Luika Timmerman, Aras N. Mattis, Kan Toriguchi, Yosuke Kasai, Carlos Corvera, Eric Nakakura et al. "Metastatic colorectal adenocarcinoma tumor purity assessment from whole exome sequencing data". PLOS ONE 18, n.º 4 (6 de abril de 2023): e0271354. http://dx.doi.org/10.1371/journal.pone.0271354.
Texto completoGhosh, Rajarshi, Andrew Oler, Mark Rustad, Samuel Li, Jia Yan, Morgan Similuk, Steven Holland y Magdalena Walkiewicz-Yvon. "P469: Clinical relevance of mosaic variants detected from exome sequencing data". Genetics in Medicine Open 1, n.º 1 (2023): 100516. http://dx.doi.org/10.1016/j.gimo.2023.100516.
Texto completoGhosh, Rajarshi, Andrew Oler, Mark Rustad, Samuel Li, Jia Yan, Morgan Similuk, Bryce Seifert, Katherine Calvo, Steven Holland y Magdalena Walkiewicz. "Clinical relevance of somatic mosaic variants detected from exome sequencing data". Clinical Immunology 250 (mayo de 2023): 109363. http://dx.doi.org/10.1016/j.clim.2023.109363.
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