Literatura científica selecionada sobre o tema "Clinical exome sequencing"
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Artigos de revistas sobre o assunto "Clinical exome sequencing":
Gomez, Christopher M., e Soma Das. "Clinical Exome Sequencing". JAMA Neurology 71, n.º 10 (1 de outubro de 2014): 1215. http://dx.doi.org/10.1001/jamaneurol.2014.2015.
Friedman, Jan M., Kenneth Lyons Jones e John C. Carey. "Exome Sequencing and Clinical Diagnosis". JAMA 324, n.º 7 (18 de agosto de 2020): 627. http://dx.doi.org/10.1001/jama.2020.11126.
Vilarinho, Sílvia, e Pramod K. Mistry. "Exome Sequencing in Clinical Hepatology". Hepatology 70, n.º 6 (29 de novembro de 2019): 2185–92. http://dx.doi.org/10.1002/hep.30826.
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 junho de 2019): 2478–80. http://dx.doi.org/10.1056/nejmc1812033.
Miyatake, Satoko, e Naomichi Matsumoto. "Clinical exome sequencing in neurology practice". Nature Reviews Neurology 10, n.º 12 (4 de novembro de 2014): 676–78. http://dx.doi.org/10.1038/nrneurol.2014.213.
Fogel, Brent L., Saty Satya-Murti e Bruce H. Cohen. "Clinical exome sequencing in neurologic disease". Neurology: Clinical Practice 6, n.º 2 (21 de março de 2016): 164–76. http://dx.doi.org/10.1212/cpj.0000000000000239.
Sutton, Amelia L. M., e Nathaniel H. Robin. "Clinical application of whole exome sequencing". Current Opinion in Pediatrics 24, n.º 6 (dezembro de 2012): 663–64. http://dx.doi.org/10.1097/mop.0b013e32835a1996.
Liew, Wendy K. M., Tawfeg Ben-Omran, Basil T. Darras, Sanjay P. Prabhu, Darryl C. De Vivo, Matteo Vatta, Yaping Yang, Christine M. Eng e Wendy K. Chung. "Clinical Application of Whole-Exome Sequencing". JAMA Neurology 70, n.º 6 (1 de junho de 2013): 788. http://dx.doi.org/10.1001/jamaneurol.2013.247.
Koch, Linda. "Whole-exome sequencing for clinical diagnostics". Nature Reviews Genetics 17, n.º 5 (21 de março de 2016): 252. http://dx.doi.org/10.1038/nrg.2016.38.
Biesecker, Leslie G., e Robert C. Green. "Diagnostic Clinical Genome and Exome Sequencing". New England Journal of Medicine 370, n.º 25 (19 de junho de 2014): 2418–25. http://dx.doi.org/10.1056/nejmra1312543.
Teses / dissertações sobre o assunto "Clinical exome sequencing":
Andeer, Robin. "Coverage analysis and visualization in clinical exome sequencing". Thesis, KTH, Skolan för bioteknologi (BIO), 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-149941.
Sanchis, Juan Alba. "Exome Sequencing in Gastrointestinal Food Allergy Induced by Multiple Food Protein". Doctoral thesis, Universitat Politècnica de València, 2020. http://hdl.handle.net/10251/134361.
[CAT] Durant les últimes dècades, s'han realitzat importants avanços en l'estudi de les causes genètiques de malalties rares i comunes, on un gran nombre de variants han sigut identificades i associades a múltiples malalties. Amb les tecnologies de seqüenciació de nova generació, avui en dia som capaços d'investigar, amb un alt rendiment, la contribució de variants d'alta i baixa freqüència a diferents tipus de malalties, permetent-nos així estudiar la seva importància en el desenvolupament de les mateixes. En aquesta tesis s'ha utilitzat la seqüenciació del exoma com a tecnologia per a l'estudi de variants rares en una malaltia complexa, l'al·lèrgia gastrointestinal induïda per múltiples aliments. Per això, es va realitzar la seqüenciació del exoma complet d'una cohort de 31 individus (vuit afectats i 23 no afectats) provinents de set famílies diferents. Es va desenvolupar un flux de treball per a processar les dades generades a partir de diferents llibreries e instruments de seqüenciació, així com un control de qualitat exhaustiu amb la fi de maximitzar el nombre de variants d'alta qualitat. Diferents tipus de mutacions foren investigades, incloïent polimorfismes de nucleòtid únic, insercions/delecions, variants del nombre de còpia i haplotips HLA, i es realitzaren diferent mètodes de filtrat per a la seva interpretació. Finalment, es trobaren una sèrie de mutacions que podrien estar associades amb la malaltia i es descriu el seu possible paper en la patogènesis de les al·lèrgies gastrointestinals. Els resultats d'aquesta tesis suposen importants avanços en l'estudi de la complexa arquitectura genètica de les al·lèrgies gastrointestinals i obrin les portes a futures línies d'investigació, que seran necessàries per entendre completament les bases genètiques d'aquesta malaltia.
[EN] The study of genetics has been making significant progress towards understanding the causes of rare and common disease during the past decades. Across a wide range of disorders, there have been hundreds of associated loci identified and associated with multiple disorders. Now, with the advent of next-generation sequencing technologies, we are able to interrogate the contribution of high and low frequency variation to disease in a high throughput manner. This provides an opportunity to investigate the role of rare variation in complex disease risk, potentially offering insights into disease pathogenesis and biological mechanisms. In this thesis, it has been assessed the use of whole-exome sequencing technology to investigate the role of rare variation in a complex disease, gastrointestinal food allergy induced by multiple food proteins. For that, a cohort of 31 individuals (eight affected and 23 non-affected) from seven different families was whole exome sequenced. Data obtained from multiple sequencing systems and libraries were analysed, and a workflow was developed, focusing on a comprehensive quality control to maximise the number of real positive calls. Different types of genome variations were investigated, including single nucleotide variants, insertions/deletions, copy number variants and HLA haplotypes. By approaching different methods of variant filtering, a set of rare variants that could be associated with the disease was identified. The possible role of these candidate variants in the pathogenesis of gastrointestinal food allergies was also discussed. These results reveal important insights into the genetic architecture of gastrointestinal food allergies and lead to additional lines of investigation that will be required in order to fully understand the genetic basis of this disease.
Sanchis Juan, A. (2019). Exome Sequencing in Gastrointestinal Food Allergy Induced by Multiple Food Protein [Tesis doctoral no publicada]. Universitat Politècnica de València. https://doi.org/10.4995/Thesis/10251/134361
TESIS
Natarajan, Pradeep. "Association of Clinical Features With Incidental Findings From Exome Sequencing in 3,223 African Americans". Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:22837738.
Marangoni, Martina. "Implementation of clinical exome sequencing in prenatal setting: comparing between prospective and retrospective cohort studies". Doctoral thesis, Universite Libre de Bruxelles, 2021. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/331254.
Doctorat en Sciences biomédicales et pharmaceutiques (Médecine)
info:eu-repo/semantics/nonPublished
Raffan, Eleanor. "Rare syndromes of perturbed insulin action and production : application of exome sequencing and characterisation of their cellular phenotypes". Thesis, University of Cambridge, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.648236.
Fisher, Rachel. "Clinical whole exome sequencing in an academic pediatric hospital: A descriptive study of the diagnostic odyssey". University of Cincinnati / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427813369.
Matias, Margret. "Comparison of medical management and genetic counseling options pre- and post-whole exome sequencing for patients with positive and negative results". University of Cincinnati / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1490352906282189.
Hood, Rebecca. "Molecular and Clinical Delineation of Rare Disorders of Stature". Thesis, Université d'Ottawa / University of Ottawa, 2017. http://hdl.handle.net/10393/36067.
Hastings, Rob. "Using 'next-generation' sequencing in the identification of novel causes of inherited heart diseases". Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:6555e02b-e0e9-4632-9f75-f403dfcc35a3.
Borman, Natalie. "Study to identify the associations between polymorphisms in pharmacogenetic loci, mycophenolic acid precursors (mofetil or sodium) and clinical outcomes in renal transplant recipients using array based exome SNP sequencing". Thesis, University of Southampton, 2014. https://eprints.soton.ac.uk/374655/.
Livros sobre o assunto "Clinical exome sequencing":
Clark, Robin D., e Cynthia J. Curry. Genetic Consultations in the Newborn. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780199990993.001.0001.
Ingles, Jodie, Charlotte Burns e Laura Yeates. Genetic counselling. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0145.
Kotzer, Katrina E., e Sarah E. Kerr. Molecular Technologies and Test Issues. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190604929.003.0005.
Capítulos de livros sobre o assunto "Clinical exome sequencing":
Chiang, Theodore, Magalie Leduc, Mari Tokita, Teresa Santiago-Sim e Yaping Yang. "Exome Sequencing in the Clinical Setting". In Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, 305–20. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56418-0_14.
Durand, Claudia, e Saskia Biskup. "Genome, Exome, and Gene Panel Sequencing in a Clinical Setting". In Nucleic Acids as Molecular Diagnostics, 271–90. Weinheim, Germany: Wiley-VCH Verlag GmbH & Co. KGaA, 2014. http://dx.doi.org/10.1002/9783527672165.ch12.
Biradar, Shivaleela, K. M. Kiran Kumar, M. Naveen Kumar e R. L. Babu. "Identification of Clinical Variants Present in Skin Melanoma Using Exome Sequencing Data". In Learning and Analytics in Intelligent Systems, 85–96. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-46943-6_10.
De Braekeleer, Marc, Etienne De Braekeleer e Nathalie Douet-Guilbert. "Whole-Genome/Exome Sequencing in Acute Leukemia: From Research to Clinics". In Next Generation Sequencing in Cancer Research, Volume 2, 381–400. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-15811-2_22.
Acharya, Anu, Shibichakravarthy Kannan, Brajendra Kumar, Jasmine Khurana, Sushma Patil e Geethanjali Tanikella. "Impact of Human Exome Sequencing on Clinical Research". In Healthcare Ethics and Training, 603–24. IGI Global, 2017. http://dx.doi.org/10.4018/978-1-5225-2237-9.ch027.
O. Prosser, Debra, Indu Raja, Kelly Kolkiewicz, Antonio Milano e Donald Roy Love. "Clinical Validation of a Whole Exome Sequencing Pipeline". In Molecular Medicine [Working Title]. IntechOpen, 2020. http://dx.doi.org/10.5772/intechopen.93251.
Horvath, Anelia D., Christopher Wassif, Evan Ball, Monalisa Azevedo, Sumeeta Singh, Jonathan Epstein, Julie Niemela et al. "Exome Sequencing in Patients with Carney Triad Reveals Genetic Variations in Functionally Relevant Pathways". In CLINICAL/TRANSLATIONAL - Endocrine Neoplasia, P3–45—P3–45. The Endocrine Society, 2011. http://dx.doi.org/10.1210/endo-meetings.2011.part3.p18.p3-45.
Clark, Robin D., e Cynthia J. Curry. "Hypotonia". In Genetic Consultations in the Newborn, editado por Robin D. Clark e Cynthia J. Curry, 3–10. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780199990993.003.0001.
Bruno, Stefania, e Nayana Lahiri. "Genetics of neuropsychiatric disease". In Oxford Textbook of Neuropsychiatry, editado por Niruj Agrawal, Rafey Faruqui e Mayur Bodani, 127–40. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198757139.003.0012.
Kendall, Kimberley M., James T. R. Walters e Michael C. O’Donovan. "Genetics of schizophrenia". In New Oxford Textbook of Psychiatry, editado por John R. Geddes, Nancy C. Andreasen e Guy M. Goodwin, 587–96. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198713005.003.0059.
Trabalhos de conferências sobre o assunto "Clinical exome sequencing":
Shakhbatyan, Rimma, Himanshu Sharma, Ellen Tsai, Mark J. Bowser, Birgit Funke e Matthew S. Lebo. "Validation and implementation of whole-exome sequencing bioinformatics processes for clinical applications". In BCB '14: ACM-BCB '14. New York, NY, USA: ACM, 2014. http://dx.doi.org/10.1145/2649387.2660794.
Wagle, Nikhil, Eliezer Van Allen, Danielle Perrin, Dennis Friedrich, Sheila Fisher, Gregory Kryukov, Lauren Ambrogio et al. "Abstract 3152: CanSeq: prospective clinical whole-exome sequencing of FFPE tumor samples." 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.am2013-3152.
Chang, Vivian, Hane Lee, Tom Davidson, Naghmeh Dorrani, Erin O'Leary, Patricia A. Ganz, Stanley F. Nelson e Julian A. Martinez-Agosto. "Abstract 08: Clinical exome sequencing in the diagnosis of pediatric cancer predisposition". In Abstracts: AACR Special Conference: Cancer Susceptibility and Cancer Susceptibility Syndromes; January 29-February 1, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.cansusc14-08.
Liu, Rangjiao Roger, Anuradha Lakshminarayana, Daniel Durkin, Sara Patterson, Craig Hanna, Grace A. Stafford, Guruprasad Ananda, Krishna M. Karuturi e Susan M. Mockus. "Clinical knowledgebase to interprete genomic variations from targeted exome sequencing of patient tumor samples". In BCB '15: ACM International Conference on Bioinformatics, Computational Biology and Biomedicine. New York, NY, USA: ACM, 2015. http://dx.doi.org/10.1145/2808719.2811432.
Cullinan, Darren R., S. Peter Goedegebuure, Chris A. Miller, Timothy M. Nywening, Samuel Kim, Elaine R. Mardis, William G. Hawkins e William E. Gillanders. "Abstract A70: Identification of pancreatic cancer neoantigens by exome and RNA sequencing analysis". In Abstracts: AACR Special Conference on Pancreatic Cancer: Advances in Science and Clinical Care; May 12-15, 2016; Orlando, FL. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.panca16-a70.
Monleon, Angela Martinez, Susanne Reinsbach, Niloufar Javanmardi, Anna Djos, Rose-Marie Sjoberg, Per Kogner, Tommy Martinsson e Susanne Fransson. "Abstract 4867: Exome- and whole genome sequencing for clinical evaluation and precision medicine in neuroblastoma". In Proceedings: AACR Annual Meeting 2017; April 1-5, 2017; Washington, DC. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.am2017-4867.
Ho, Cheng-Mao, Hsi-Yuan Huang, Chin-An Yang, Ya-Sian Chang, Chien-Yu Lin e Jan-Gowth Chang. "Establish Reporting Format of Gene Related Rare-Diseases by Exome Sequencing in the Clinical Medical Laboratory". In 2016 IEEE 16th International Conference on Bioinformatics and Bioengineering (BIBE). IEEE, 2016. http://dx.doi.org/10.1109/bibe.2016.66.
Schleifman, Erica B., Anna Kiialainen, Andreas Roller, Sabine Bader, Maipelo Motlhabi, Priti Hegde, Ian McCaffery et al. "Abstract 3631: Whole transcriptome and exome targeted RNA sequencing for FFPE tumor samples from clinical trials". 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.am2016-3631.
Xu, Qiang, Guan Wang, Chun Dai, Cheng Chen, Xiaoman Xu, Haining Wang, Angela Wu e Jiping Wang. "Abstract LB-040: Application of clinical whole exome sequencing among larger scale advanced cancer patients in China". In Proceedings: AACR Annual Meeting 2017; April 1-5, 2017; Washington, DC. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.am2017-lb-040.
Parsons, Donald W., Angshumoy Roy, Federico A. Monzon, Yaping Yang, Dolores H. López-Terrada, Murali M. Chintagumpala, Stacey L. Berg et al. "Abstract 5169: Diagnostic yield of clinical tumor and germline exome sequencing for newly diagnosed children with solid tumors". In Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-5169.