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Статті в журналах з теми "Variante somatica"
Bennett, Mark F., Michael S. Hildebrand, Sayaka Kayumi, Mark A. Corbett, Sachin Gupta, Zimeng Ye, Michael Krivanek, et al. "Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy." Neurology Genetics 8, no. 1 (January 25, 2022): e0652. http://dx.doi.org/10.1212/nxg.0000000000000652.
Повний текст джерелаUra, Hiroki, Sumihito Togi, and Yo Niida. "Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing." International Journal of Molecular Sciences 21, no. 10 (May 16, 2020): 3530. http://dx.doi.org/10.3390/ijms21103530.
Повний текст джерелаDas, Kingshuk, Amber Carter, Brandie Heald, Scott T. Michalski, Sarah M. Nielsen, Nhu Ngo, Sara Elrefai, et al. "Integrated germline and somatic cancer testing provides opportunity to identify cancer risk and resolve variant origins." Journal of Clinical Oncology 40, no. 16_suppl (June 1, 2022): 10589. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.10589.
Повний текст джерелаTsuchida, Naomi, Yosuke Kunishita, Yuri Uchiyama, Yohei Kirino, Makiko Enaka, Yukie Yamaguchi, Masataka Taguri, et al. "Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis." Annals of the Rheumatic Diseases 80, no. 8 (March 31, 2021): 1057–61. http://dx.doi.org/10.1136/annrheumdis-2021-220089.
Повний текст джерелаFujita, Atsushi, Takefumi Higashijima, Hiroshi Shirozu, Hiroshi Masuda, Masaki Sonoda, Jun Tohyama, Mitsuhiro Kato, et al. "Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma." Neurology 93, no. 3 (June 13, 2019): e237-e251. http://dx.doi.org/10.1212/wnl.0000000000007774.
Повний текст джерелаWu, Yanqing, Wenzhe Fan, Miao Xue, Yiyang Tang, Suo Peisu, Bo Yang, Tanxiao Huang, Jing Zhang, and Jiaping Li. "TP53 pathogenic variants with low allele fraction in germline genetic testing." Journal of Clinical Oncology 40, no. 16_suppl (June 1, 2022): 10600. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.10600.
Повний текст джерелаBrown, Natasha J., Zimeng Ye, Chloe Stutterd, Sureshni I. Jayasinghe, Amy Schneider, Saul Mullen, Simone A. Mandelstam, and Michael S. Hildebrand. "Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome." Molecular Case Studies 7, no. 6 (September 29, 2021): a006127. http://dx.doi.org/10.1101/mcs.a006127.
Повний текст джерелаKhanna, Shivani, Steven Brad Maron, Leah Chase, Samantha Lomnicki, Sonia Kupfer, and Daniel V. T. Catenacci. "Suspected and confirmed germline variants from tumor-only somatic sequencing of 864 gastrointestinal malignancies." Journal of Clinical Oncology 37, no. 15_suppl (May 20, 2019): e13131-e13131. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e13131.
Повний текст джерелаMichalski, Scott T., Daniel Esteban Pineda Alvarez, Meaghan Russell, Shan Yang, Guru Sonpavde, and Edward D. Esplin. "Tumor sequencing with germline genetic testing: Identification of patients with hereditary cancer and precision treatment eligibility." Journal of Clinical Oncology 37, no. 15_suppl (May 20, 2019): 1580. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.1580.
Повний текст джерелаSancho-Galán, Pau, Antonio Amores-Arrocha, Víctor Palacios, and Ana Jiménez-Cantizano. "Preliminary Study of Somatic Variants of Palomino Fino (Vitis vinifera L.) Grown in a Warm Climate Region (Andalusia, Spain)." Agronomy 10, no. 5 (May 4, 2020): 654. http://dx.doi.org/10.3390/agronomy10050654.
Повний текст джерелаДисертації з теми "Variante somatica"
Vijayan, Vinaya. "Understanding and Improving Identification of Somatic Variants." Diss., Virginia Tech, 2016. http://hdl.handle.net/10919/72969.
Повний текст джерелаPh. D.
Muyas, Remolar Francesc 1992. "Highly accurate variant detection for identification of tumor mutations and mosaic variants." Doctoral thesis, Universitat Pompeu Fabra, 2019. http://hdl.handle.net/10803/668325.
Повний текст джерелаEl ràpid desenvolupament de les tecnologies de seqüenciació d’alt rendiment ha impulsat els camps de la genòmica mèdica i la medicina d’alta precisió, creant una gran varietat de noves aplicacions, les quals requereixen dades d’una qualitat excel·lent i mètodes d’anàlisi altament precisos. La distinció entre errors i variants reals en dades de seqüenciació de propera generació (NGS) és un repte quan hi ha errors sistemàtics o aleatoris mesclats amb variants germinals o somàtiques a freqüències al·lèliques molt baixes. En la primera part d'aquesta tesi, hem desenvolupat un filtre per al genotipatge de variants (ABB) capaç d'identificar errors sistemàtics durant el procés de detecció de variants que altres mètodes convencionals no poden trobar. Aquesta eina filtra falsos positius del conjunt de variants finals en estudis de variacions somàtiques i germinals, així com també detecta falses associacions de malalties gèniques en estudis de casos-controls. En segon lloc, hem desenvolupat un conjunt de nous mètodes capaços de distingir i corregir els errors de seqüenciació i PCR amb l’ús d’identificadors moleculars. Aquests ens permeten modelar les taxes d’error i conseqüentment detectar mutacions somàtiques a freqüències al·lèliques extremadament baixes en l’anàlisi de biòpsies líquides. Per finalitzar aquesta tesi, hem caracteritzat les mutacions mosaiques en un estudi multi-teixit multi-individu utilitzant una cohort de centenars d'individus sans amb milers de mostres.
Demidov, German 1990. "Methods for detection of germline and somatic copy-number variants in next generation sequencing data." Doctoral thesis, Universitat Pompeu Fabra, 2019. http://hdl.handle.net/10803/668208.
Повний текст джерелаLas variantes en el número de copias genéticas, tanto en estado germinal (CNV) como en somático (CNA), juegan un papel muy importante en muchos rasgos fenotípicos y están frecuentemente relacionadas con una gran variedad enfermedades genéticas y cáncer. Aunque la secuenciación de próxima generación (NGS) permite detectar variantes cortas con una gran precisión, la correcta detección de CNVs a gran escala con datos de secuenciación sigue siendo un gran desafío. En esta tesis, me centro en abordar este problema y describo un nuevo método estadístico para la detección de CNV y CNA englobado en una nueva herramienta llamada ClinCNV. Para el análisis del rendimiento de ClinCNV y demostrar las ventajas de este nuevo algoritmo, comparamos nuestra herramienta con otras existentes en distintos conjuntos de datos. Por otra parte, ClinCNV ya está implementado como parte del sistema de trabajo de diagnóstico en el Instituto de Genética Médica y Genómica Aplicada (IMGAG) en Tuebingen (Alemania). En resumen, ClinCNV tiene el potencial de facilitar el diagnóstico molecular de enfermedades genéticas y cáncer mediante la precisa detección de variantes en el número de copias genéticas.
Lobón, García Irene. "Detection of somatic variants from genomic data and their role in neurodegenerative diseases." Doctoral thesis, Universitat de Barcelona, 2019. http://hdl.handle.net/10803/667569.
Повний текст джерелаLas mutaciones somáticas son aquellas que surgen tras la formación del cigoto y son, por tanto, heredadas por una fracción de las células de un individuo. Su importancia en algunas enfermedades cutáneas se conoce desde hace casi medio siglo. El cáncer, la enfermedad más común causada por mutaciones somáticas, se ha estudiado extensamente. Sin embargo, su prevalencia en individuos sanos, así como su potencial relevancia en otras afecciones humanas, como las enfermedades neurodegenerativas, son cuestiones todavía por resolver. Asimismo, detectar variantes somáticas con precisión en datos de secuenciación de muestras homogeneizadas sigue siendo complejo técnicamente. Este trabajo se centra en la detección y resolución de los sesgos que dificultan su identificación. Aplicando este conocimiento, identificamos mutaciones somáticas de una sola base en datos de secuenciación del exoma de cinco tejidos diferentes de pacientes de la enfermedad de Parkinson. También evaluamos la detección de variantes de número de copia somáticas en datos de array CGH de dos tejidos de pacientes de Alzheimer. Finalmente, participamos en la identificación de variantes somáticas en un amplio conjunto de datos genómicos de un individuo neurotípico.
Hasan, Mohammad Shabbir. "Identifying and Analyzing Indel Variants in the Human Genome Using Computational Approaches." Diss., Virginia Tech, 2019. http://hdl.handle.net/10919/90797.
Повний текст джерелаDoctor of Philosophy
Insertion and deletion (indel), a common form of genetic variation in the human genome, is associated with genetic diseases and cancer. However, indels are heavily understudied due to experimental and computational challenges. This dissertation addresses the computational challenges in three aspects. First, the current approach of representing indels is ambiguous and causes significant database redundancy. A universal positioning system, UPS-indel, is proposed to represent equivalent indels unambiguously and the UPS-indel algorithm is theoretically proven to find all equivalent indels and is thus exhaustive. Second, a significant number of indels are hidden in DNA reads not mapped to the reference genome. Genesis-indel, a computational pipeline that explores the unmapped reads to identify novel indels that are initially missed, is developed. Genesis-indel has been shown to uncover indels that can be important genetic markers for breast cancer. Finally, mutations occurring in somatic cells play a vital role in transforming healthy cells into cancer cells. Therefore, accurate identification of somatic mutation is essential for a better understanding of cancer genomes. SomaticHunter, an ensemble of two sensitive variant callers, is developed. Simulated studies using whole genome and whole exome sequences have shown that SomaticHunter achieves recall comparable to state-of-the-art somatic mutation callers while delivering the highest precision and therefore resulting in the highest F1 score among all the callers compared.
Lim, Wai Yen Alfred. "Directed evolution of human single-chain variable fragments (scFv) by somatic hypermutation." Thesis, University of Cambridge, 2014. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.707919.
Повний текст джерелаRoth, Andrew Justin Latham. "Probabilistic models for the identification and interpretation of somatic single nucleotide variants in cancer genomes." Thesis, University of British Columbia, 2015. http://hdl.handle.net/2429/56222.
Повний текст джерелаScience, Faculty of
Graduate
Cai, Xuyu. "Single-Neuron Sequencing to Explore Somatic Genetic Variants in Normal and Pathological Human Brain Development." Thesis, Harvard University, 2013. http://dissertations.umi.com/gsas.harvard:10858.
Повний текст джерелаPlanas, Fèlix Mercè. "Detection and classification of somatic structural variants, and its application in the study of neuronal development." Doctoral thesis, Universitat de Barcelona, 2020. http://hdl.handle.net/10803/672163.
Повний текст джерелаMelloni, G. E. M. "COMPUTATIONAL FRAMEWORKS FOR THE IDENTIFICATION OF SOMATIC AND GERMLINE VARIANTS CONTRIBUTING TO CANCER PREDISPOSITION AND DEVELOPMENT." Doctoral thesis, Università degli Studi di Milano, 2017. http://hdl.handle.net/2434/462986.
Повний текст джерелаКниги з теми "Variante somatica"
Quain, Angela, and Anne M. Comi. Sturge-Weber Syndrome and Related Cerebrovascular Malformation Syndromes. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0112.
Повний текст джерелаVan den Bergh, Omer, Nadia Zacharioudakis, and Sibylle Petersen. Interoception, categorization, and symptom perception. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198811930.003.0011.
Повний текст джерелаDeRubeis, Robert J., and Daniel R. Strunk, eds. The Oxford Handbook of Mood Disorders. Oxford University Press, 2015. http://dx.doi.org/10.1093/oxfordhb/9780199973965.001.0001.
Повний текст джерелаZachar, Peter, and Kenneth S. Kendler. A DSM insiders’ history of premenstrual dysphoric disorder. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780198725978.003.0041.
Повний текст джерелаЧастини книг з теми "Variante somatica"
An, Jisong, Kyoung Il Min, and Young Seok Ju. "Identifying Somatic Mitochondrial DNA Mutations." In Variant Calling, 153–65. New York, NY: Springer US, 2022. http://dx.doi.org/10.1007/978-1-0716-2293-3_10.
Повний текст джерелаHuang, Weitai, Ngak Leng Sim, and Anders J. Skanderup. "Accurate Ensemble Prediction of Somatic Mutations with SMuRF2." In Variant Calling, 53–66. New York, NY: Springer US, 2022. http://dx.doi.org/10.1007/978-1-0716-2293-3_4.
Повний текст джерелаGarofoli, Andrea, Désirée Schnidrig, and Charlotte K. Y. Ng. "PipeIT2: Somatic Variant Calling Workflow for Ion Torrent Sequencing Data." In Variant Calling, 195–204. New York, NY: Springer US, 2022. http://dx.doi.org/10.1007/978-1-0716-2293-3_12.
Повний текст джерелаBahonar, Sajedeh, and Hesam Montazeri. "Somatic Single-Nucleotide Variant Calling from Single-Cell DNA Sequencing Data Using SCAN-SNV." In Variant Calling, 267–77. New York, NY: Springer US, 2022. http://dx.doi.org/10.1007/978-1-0716-2293-3_17.
Повний текст джерелаLi, Minghao, Ting He, Chen Cao, and Quan Long. "An Individualized Approach for Somatic Variant Discovery." In Bioinformatics for Cancer Immunotherapy, 11–36. New York, NY: Springer US, 2020. http://dx.doi.org/10.1007/978-1-0716-0327-7_2.
Повний текст джерелаDienstmann, Rodrigo. "Standardized Decision Support in NGS Reports of Somatic Cancer Variants." In Next Generation Sequencing in Cancer Research, Volume 2, 67–80. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-15811-2_5.
Повний текст джерелаChang, Ti-Cheng, Ke Xu, Zhongshan Cheng, and Gang Wu. "Somatic and Germline Variant Calling from Next-Generation Sequencing Data." In Advances in Experimental Medicine and Biology, 37–54. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-91836-1_3.
Повний текст джерелаMoriyama, Takuya, Seiya Imoto, Satoru Miyano, and Rui Yamaguchi. "Theoretical Foundation of the Performance of Phylogeny-Based Somatic Variant Detection." In Mathematical and Computational Oncology, 87–101. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-64511-3_9.
Повний текст джерелаNicora, Giovanna, Simone Marini, Ivan Limongelli, Ettore Rizzo, Stefano Montoli, Francesca Floriana Tricomi, and Riccardo Bellazzi. "A Semi-supervised Learning Approach for Pan-Cancer Somatic Genomic Variant Classification." In Artificial Intelligence in Medicine, 42–46. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-21642-9_7.
Повний текст джерелаZiebarth, Jesse D., Anindya Bhattacharya, and Yan Cui. "Functional Analysis of Genetic Variants and Somatic Mutations Impacting MicroRNA-Target Recognition: Bioinformatics Resources." In Methods in Molecular Biology, 101–20. New York, NY: Springer New York, 2019. http://dx.doi.org/10.1007/978-1-4939-9207-2_8.
Повний текст джерелаТези доповідей конференцій з теми "Variante somatica"
Arslanturk, Suzan, and Sorin Draghici. "Disease Subtyping using Somatic Variant Data." In BCB '18: 9th ACM International Conference on Bioinformatics, Computational Biology and Health Informatics. New York, NY, USA: ACM, 2018. http://dx.doi.org/10.1145/3233547.3233565.
Повний текст джерелаNorris, Alexis L., Rachael E. Workman, Yunfan Fan, James R. Eshleman, and Winston Timp. "Abstract 3608: Detection of somatic structural variants using nanopore sequencing." In Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-3608.
Повний текст джерелаLai, Zhongwu, Brad Chapman, Miika Ahdesmäki, Oliver Hofmann, Justin Johnson, and Jonathan Dry. "Abstract 166: Optimizing the detection of subclonal somatic variants with VarDict." In Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-166.
Повний текст джерелаHarley, Alena S., Corine K. Lau, and Eve Shinbrot. "Abstract 2474: Automated somatic variant classifier to reduce false positives identified by tumor normal variant callers." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-2474.
Повний текст джерелаHarley, Alena S., Corine K. Lau, and Eve Shinbrot. "Abstract 2474: Automated somatic variant classifier to reduce false positives identified by tumor normal variant callers." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.am2019-2474.
Повний текст джерелаLee, Joyce, Andy Wing Chun PANG, Caspar Groß, Jakob Admard, Elena Buena-Atienza, Stephan Ossowski, Thomas Anantharaman, Mark Oldakowski, Sven Bocklandt, and Alex Hastie. "Abstract 1329: Identifying low allele frequency somatic variants using the Saphyr System." In Proceedings: AACR Annual Meeting 2020; April 27-28, 2020 and June 22-24, 2020; Philadelphia, PA. American Association for Cancer Research, 2020. http://dx.doi.org/10.1158/1538-7445.am2020-1329.
Повний текст джерелаMerino, Maria J., Esra Dikoglu, Sandeep Gurram, Marston Linehan, and Ramaprasad Srinivasan. "Abstract 2556: The somatic variant of HLRCC, an unrecognized type of RCC." In Proceedings: AACR Annual Meeting 2021; April 10-15, 2021 and May 17-21, 2021; Philadelphia, PA. American Association for Cancer Research, 2021. http://dx.doi.org/10.1158/1538-7445.am2021-2556.
Повний текст джерелаBoyle, Sean M., Michael J. Clark, Ravi Alla, Shujun Luo, Deanna M. Church, Elena Helman, Parin Sripakdeevong, John West, and Rich Chen. "Abstract 533: Accurately identifying expressed somatic variants for neoantigen detection and immuno-oncology." In Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-533.
Повний текст джерелаDias-Santagata, Dora, David G. McFadden, Lindsay A. Bernardo, Kerry D. Lynch, A. John Iafrate, Peter M. Sadow, and Gilbert H. Daniels. "Abstract 1191: Somatic mutation profiling of the follicular variant of papillary thyroid cancer." In Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-1191.
Повний текст джерелаStratford, Jeran, Gunjan Hariani, Jeff Jasper, Chad Brown, Wendell Jones, and Victor J. Weigman. "Abstract 5276: Impact of duplicate removal on low frequency NGS somatic variant calling." In Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-5276.
Повний текст джерелаЗвіти організацій з теми "Variante somatica"
Weller, Joel I., Derek M. Bickhart, Micha Ron, Eyal Seroussi, George Liu, and George R. Wiggans. Determination of actual polymorphisms responsible for economic trait variation in dairy cattle. United States Department of Agriculture, January 2015. http://dx.doi.org/10.32747/2015.7600017.bard.
Повний текст джерела