Journal articles on the topic 'Variante somatica'
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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.
Full textUra, 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.
Full textDas, 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.
Full textTsuchida, 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.
Full textFujita, 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.
Full textWu, 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.
Full textBrown, 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.
Full textKhanna, 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.
Full textMichalski, 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.
Full textSancho-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.
Full textChin, Diana, Matthew A. Kutny, Jonathan Grim, Robert B. Gerbing, Kristen Miller, Jason E. Farrar, Jaime M. Guidry Auvil, et al. "Comprehensive Genomic and Transcript Profiling of CBL Gene in Childhood AML: A Report from Children's Oncology Group Studies AAML03P1, AAML0531 and COG/NCI Target AML Initiative." Blood 126, no. 23 (December 3, 2015): 170. http://dx.doi.org/10.1182/blood.v126.23.170.170.
Full textPeculis, Raitis, Vita Rovite, Kaspars Megnis, Inga Balcere, Austra Breiksa, Jurijs Nazarovs, Janis Stukens, et al. "Whole exome sequencing reveals novel risk genes of pituitary neuroendocrine tumors." PLOS ONE 17, no. 8 (August 26, 2022): e0265306. http://dx.doi.org/10.1371/journal.pone.0265306.
Full textMoody, Emily W., Jennie Vagher, Whitney Espinel, David Goldgar, Kelsi J. Hagerty, and Amanda Gammon. "Comparison of Somatic and Germline Variant Interpretation in Hereditary Cancer Genes." JCO Precision Oncology, no. 3 (December 2019): 1–8. http://dx.doi.org/10.1200/po.19.00144.
Full textSmith, Kyle S., Vinod K. Yadav, Shanshan Pei, Daniel A. Pollyea, Craig T. Jordan, and Subhajyoti De. "SomVarIUS: somatic variant identification from unpaired tissue samples." Bioinformatics 32, no. 6 (November 20, 2015): 808–13. http://dx.doi.org/10.1093/bioinformatics/btv685.
Full textChowdhury, Murad, Brent S. Pedersen, Fritz J. Sedlazeck, Aaron R. Quinlan, and Ryan M. Layer. "Searching thousands of genomes to classify somatic and novel structural variants using STIX." Nature Methods 19, no. 4 (April 2022): 445–48. http://dx.doi.org/10.1038/s41592-022-01423-4.
Full textGilmore, G. L., J. Q. Yang, K. B. Marcu, and B. K. Birshtein. "Absence of somatic mutation in the variable region of MPC 11 variants expressing a different heavy chain isotype." Journal of Immunology 139, no. 2 (July 15, 1987): 619–24. http://dx.doi.org/10.4049/jimmunol.139.2.619.
Full textKoehler, Viktoria Florentine, Pia Adam, Carmina Teresa Fuss, Linmiao Jiang, Elke Berg, Karin Frank-Raue, Friedhelm Raue, et al. "Treatment of RET-Positive Advanced Medullary Thyroid Cancer with Multi-Tyrosine Kinase Inhibitors—A Retrospective Multi-Center Registry Analysis." Cancers 14, no. 14 (July 13, 2022): 3405. http://dx.doi.org/10.3390/cancers14143405.
Full textLim, Tristan L., David B. Lieberman, Adam R. Davis, Ryan Hausler, Ashkan Bigdeli, Yimei Li, Jacquelyn Powers, et al. "Germline POT1 Variants Can Predispose to a Variety of Hematologic Neoplasms." Blood 136, Supplement 1 (November 5, 2020): 2–4. http://dx.doi.org/10.1182/blood-2020-134160.
Full textHutter, Stephan, Niroshan Nadarajah, Manja Meggendorfer, Wolfgang Kern, Torsten Haferlach, and Claudia Haferlach. "Whole Genome Sequencing in Routine Hematologic Samples: How to Proceed Analyses Best When Germline Controls Are Missing?" Blood 132, Supplement 1 (November 29, 2018): 5275. http://dx.doi.org/10.1182/blood-2018-99-113294.
Full textSubbotina, T. N., I. E. Maslyukova, A. A. Faleeva, P. A. Nikolaeva, A. S. Khazieva, E. A. Dunaeva, K. O. Mironov, et al. "Using the Minor Variant Finder software to identify and quantify the allelic burden level of somatic mutations in oncohematologic diseases." Oncohematology 15, no. 2 (July 16, 2020): 85–91. http://dx.doi.org/10.17650/1818-8346-2020-15-2-85-91.
Full textShao, Xiangqiang, Shruti Rao, Coumarane Mani, Jason Saliba, Rong He, Chimene Kesserwan, Arpad Danos, et al. "Expert Curation of Somatic FLT3 Variants By the Clingen Somatic Hematologic Cancer Taskforce (ClinGen HCT)." Blood 138, Supplement 1 (November 5, 2021): 4387. http://dx.doi.org/10.1182/blood-2021-153546.
Full textKaur, Pushpinder, Daniel Campo, Tania B. Porras, Alexander Ring, Janice Lu, Yvonne Chairez, Yunyun Su, Irene Kang, and Julie E. Lang. "A Pilot Study for the Feasibility of Exome-Sequencing in Circulating Tumor Cells Versus Single Metastatic Biopsies in Breast Cancer." International Journal of Molecular Sciences 21, no. 14 (July 8, 2020): 4826. http://dx.doi.org/10.3390/ijms21144826.
Full textKueffner, Robert, Hui Li, Kakit Cheung, Marc Fink, Zachry Soens, Jinlian Wang, Osman Siddiqui, et al. "VONC: A solution for the clinical assessment of somatic genomic alterations." Journal of Clinical Oncology 37, no. 15_suppl (May 20, 2019): e13155-e13155. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e13155.
Full textChuang, Huai-Chia, Wei-Ting Hung, Yi-Ming Chen, Pu-Ming Hsu, Jeng-Hsien Yen, Joung-Liang Lan, and Tse-Hua Tan. "Genomic sequencing and functional analyses identify MAP4K3/GLK germline and somatic variants associated with systemic lupus erythematosus." Annals of the Rheumatic Diseases 81, no. 2 (October 5, 2021): 243–54. http://dx.doi.org/10.1136/annrheumdis-2021-221010.
Full textChuang, Huai-Chia, Wei-Ting Hung, Yi-Ming Chen, Pu-Ming Hsu, Jeng-Hsien Yen, Joung-Liang Lan, and Tse-Hua Tan. "Genomic sequencing and functional analyses identify MAP4K3/GLK germline and somatic variants associated with systemic lupus erythematosus." Annals of the Rheumatic Diseases 81, no. 2 (October 5, 2021): 243–54. http://dx.doi.org/10.1136/annrheumdis-2021-221010.
Full textO’Sullivan, Brian, and Cathal Seoighe. "vcfView: An Extensible Data Visualization and Quality Assurance Platform for Integrated Somatic Variant Analysis." Cancer Informatics 19 (January 2020): 117693512097237. http://dx.doi.org/10.1177/1176935120972377.
Full textJürgens, Lara, Felix Manske, Elvira Hubert, Tabea Kischka, Lea Flötotto, Oliver Klaas, Victoria Shabardina, Christoph Schliemann, Wojciech Makalowski, and Klaus Wethmar. "Somatic Functional Deletions of Upstream Open Reading Frame-Associated Initiation and Termination Codons in Human Cancer." Biomedicines 9, no. 6 (May 29, 2021): 618. http://dx.doi.org/10.3390/biomedicines9060618.
Full textBaer, Constance Regina, Niroshan Nadarajah, Claudia Haferlach, Wolfgang Kern, and Torsten Haferlach. "A Study on Paired Tissue Sequencing in Hematologic Diseases to Distinguish Somatic from Germline Sequence Variants in Routine Diagnostics." Blood 128, no. 22 (December 2, 2016): 5511. http://dx.doi.org/10.1182/blood.v128.22.5511.5511.
Full textEng, Whitney, Christopher L. Sudduth, Dennis J. Konczyk, Patrick J. Smits, Amir H. Taghinia, Steven J. Fishman, Ahmad Alomari, Denise M. Adams, and Arin K. Greene. "Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant." Molecular Case Studies 7, no. 6 (October 4, 2021): a006118. http://dx.doi.org/10.1101/mcs.a006118.
Full textEng, Whitney, Christopher L. Sudduth, Dennis J. Konczyk, Patrick J. Smits, Amir H. Taghinia, Steven J. Fishman, Ahmad Alomari, Denise M. Adams, and Arin K. Greene. "Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant." Molecular Case Studies 7, no. 6 (October 4, 2021): a006118. http://dx.doi.org/10.1101/mcs.a006118.
Full textFaienza, Maria F., Mariangela Chiarito, Fulvia Baldinotti, Domenico Canale, Carmela Savino, Guglielmo Paradies, Domenico Corica, et al. "NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes." Sexual Development 13, no. 5-6 (2019): 258–63. http://dx.doi.org/10.1159/000507411.
Full textSaliba, Jason, Gordana Raca, Angshumoy Roy, Ian King, Shamini Selvarajah, Xinjie Xu, Rashmi Kanagal-Shamanna, et al. "Abstract 1192: The Clinical Genome Resource (ClinGen) somatic cancer clinical domain working group." Cancer Research 82, no. 12_Supplement (June 15, 2022): 1192. http://dx.doi.org/10.1158/1538-7445.am2022-1192.
Full textKanagal-Shamanna, Rashmi, Shruti Rao, Panieh Terraf, Gordana Raca, Jason Saliba, Arpad Danos, Coumarane Mani, et al. "Expert Curation of Somatic Variants in Hematological Malignancies By the Clingen Somatic Hematological Cancer Taskforce (ClinGen HCT)." Blood 136, Supplement 1 (November 5, 2020): 23. http://dx.doi.org/10.1182/blood-2020-143028.
Full textAydemirli, M. D., K. van der Tuin, F. J. Hes, A. M. W. van den Ouweland, T. van Wezel, E. Kapiteijn, and H. Morreau. "A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature." Familial Cancer 19, no. 1 (October 9, 2019): 15–21. http://dx.doi.org/10.1007/s10689-019-00146-4.
Full textte Paske, Iris B. A. W., José Garcia-Pelaez, Anna K. Sommer, Leslie Matalonga, Teresa Starzynska, Anna Jakubowska, Laura Valle, et al. "A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report." European Journal of Human Genetics 29, no. 9 (June 1, 2021): 1354–58. http://dx.doi.org/10.1038/s41431-021-00853-6.
Full textMerker, Jason D., Kelly Devereaux, A. John Iafrate, Suzanne Kamel-Reid, Annette S. Kim, Joel T. Moncur, Stephen B. Montgomery, et al. "Proficiency Testing of Standardized Samples Shows Very High Interlaboratory Agreement for Clinical Next-Generation Sequencing–Based Oncology Assays." Archives of Pathology & Laboratory Medicine 143, no. 4 (October 30, 2018): 463–71. http://dx.doi.org/10.5858/arpa.2018-0336-cp.
Full textArnaud, Pauline, Hélène Morel, Olivier Milleron, Laurent Gouya, Christine Francannet, Antoine Da Costa, Carine Le Goff, Guillaume Jondeau, Catherine Boileau, and Nadine Hanna. "Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome." Genetics in Medicine 23, no. 5 (January 25, 2021): 865–71. http://dx.doi.org/10.1038/s41436-020-01078-6.
Full textFroyen, Guy, Marie Le Mercier, Els Lierman, Karl Vandepoele, Friedel Nollet, Elke Boone, Joni Van der Meulen, et al. "Standardization of Somatic Variant Classifications in Solid and Haematological Tumours by a Two-Level Approach of Biological and Clinical Classes: An Initiative of the Belgian ComPerMed Expert Panel." Cancers 11, no. 12 (December 16, 2019): 2030. http://dx.doi.org/10.3390/cancers11122030.
Full textSürün, Bilge, Charlotta P. I. Schärfe, Mathew R. Divine, Julian Heinrich, Nora C. Toussaint, Lukas Zimmermann, Janina Beha, and Oliver Kohlbacher. "ClinVAP: a reporting strategy from variants to therapeutic options." Bioinformatics 36, no. 7 (December 12, 2019): 2316–17. http://dx.doi.org/10.1093/bioinformatics/btz924.
Full textKraft, Ira Lignugaris, Amy M. Trottier, George F. Steinhardt, Nifang Niu, Pankhuri Wanjari, Wenjun Chen, Jeremy Segal, and Lucy A. Godley. "Using sequential next-generation sequencing assays to identify germline cancer predisposition variants." Journal of Clinical Oncology 38, no. 15_suppl (May 20, 2020): 1581. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.1581.
Full textLeonardi, Emanuela, Mariagrazia Bellini, Maria C. Aspromonte, Roberta Polli, Anna Mercante, Claudia Ciaccio, Elisa Granocchio, et al. "A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)." Genes 11, no. 3 (March 24, 2020): 344. http://dx.doi.org/10.3390/genes11030344.
Full textCorrea, Ricardo, Mihail Zilbermint, Annabel Berthon, Stephanie Espiard, Maria Batsis, Georgios Z. Papadakis, Paraskevi Xekouki, et al. "The ARMC5 gene shows extensive genetic variance in primary macronodular adrenocortical hyperplasia." European Journal of Endocrinology 173, no. 4 (October 2015): 435–40. http://dx.doi.org/10.1530/eje-15-0205.
Full textCarlston, Colleen M., Anne H. O'Donnell-Luria, Hunter R. Underhill, Beryl B. Cummings, Ben Weisburd, Eric V. Minikel, Daniel P. Birnbaum, Tatiana Tvrdik, Daniel G. MacArthur, and Rong Mao. "Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome." Human Mutation 38, no. 5 (March 21, 2017): 517–23. http://dx.doi.org/10.1002/humu.23203.
Full textSimms, L. J., J. J. Prisciandaro, R. F. Krueger, and D. P. Goldberg. "The structure of depression, anxiety and somatic symptoms in primary care." Psychological Medicine 42, no. 1 (June 20, 2011): 15–28. http://dx.doi.org/10.1017/s0033291711000985.
Full textMacFarland, Suzanne P., Kristin Zelley, Lea F. Surrey, Daniel Gallo, Minjie Luo, Pichai Raman, Gerald Wertheim, Stephen P. Hunger, Marilyn M. Li, and Garrett M. Brodeur. "Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition." JCO Precision Oncology, no. 3 (December 2019): 1–26. http://dx.doi.org/10.1200/po.19.00062.
Full textMcCoy, Matthew, Shruti Rao, Shannon Cosgrove, Subha Madhavan, Shashikant Kulkarni, Xinjie Xu, and Rashmi Kanagal-Shamanna. "Expert Variant Curation Combined with in-Silico analysis for Clinical Interpretation of BCL2 variants in Resistance to BCL2 Inhibitors in Chronic Lymphocytic Leukemia/ Small Lymphocytic Lymphoma." Blood 136, Supplement 1 (November 5, 2020): 42–43. http://dx.doi.org/10.1182/blood-2020-143073.
Full textWeerts, Marjolein, Marcel Smid, John Foekens, Stefan Sleijfer, and John Martens. "Mitochondrial RNA Expression and Single Nucleotide Variants in Association with Clinical Parameters in Primary Breast Cancers." Cancers 10, no. 12 (December 9, 2018): 500. http://dx.doi.org/10.3390/cancers10120500.
Full textSinghal, Deepak, Christopher N. Hahn, Luke D. Moma, Li Yan A. Wee, Rakchha Chhetri, Milena Babic, Monika M. Kutyna, et al. "Deleterious Germline Variants, Especially in the DNA Repair Pathway, Are Common in Patients with Non-Related Multiple Cancers, One of Them Being Hematological Malignancy." Blood 134, Supplement_1 (November 13, 2019): 1704. http://dx.doi.org/10.1182/blood-2019-126462.
Full textMurley, Alexander G., Yu Nie, Zoe Golder, Michael John Keogh, Colin Smith, James W. Ironside, and Patrick F. Chinnery. "High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease." Neurology Genetics 9, no. 1 (January 19, 2023): e200054. http://dx.doi.org/10.1212/nxg.0000000000200054.
Full textRicker, Charité, Erika Amundson, Sandra Algaze, Marcia Ciccone, Stephen Dong, Anishka D'souza, Kimberly Felicetti, et al. "Assessing somatic and germline variants in cancer patients." Journal of Clinical Oncology 39, no. 15_suppl (May 20, 2021): 10601. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.10601.
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