Zeitschriftenartikel zum Thema „Classification ACMG“
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Lugeiro, Palloma C., Betsaida Urtremari, Lucas S. Santana, Elisangela P. S. Quedas und Delmar Muniz Lourenco. „Comparative Analysis of Different International Criteria (ACMG-AMP vs. TENGEN) Applied to Classification of Missense Germline Allelic Variants in Patients With Multiple Endocrine Neoplasia Type 1 or Suspected to this Syndrome“. Journal of the Endocrine Society 5, Supplement_1 (01.05.2021): A1014. http://dx.doi.org/10.1210/jendso/bvab048.2074.
Der volle Inhalt der QuelleCristofoli, Francesca, Muharrem Daja, Paolo Enrico Maltese, Giulia Guerri, Benedetta Tanzi, Roberta Miotto, Gabriele Bonetti et al. „MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations“. Genes 14, Nr. 8 (08.08.2023): 1600. http://dx.doi.org/10.3390/genes14081600.
Der volle Inhalt der QuelleMattivi, Connor L., J. Martijn Bos, Richard D. Bagnall, Natalie Nowak, John R. Giudicessi, Steve R. Ommen, Christopher Semsarian und Michael J. Ackerman. „Clinical Utility of a Phenotype-Enhanced MYH7 -Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing“. Circulation: Genomic and Precision Medicine 13, Nr. 5 (Oktober 2020): 453–59. http://dx.doi.org/10.1161/circgen.120.003039.
Der volle Inhalt der QuelleCheng, Liting, Xiaoyan Li, Lin Zhao, Zefeng Wang, Junmeng Zhang, Zhuo Liang und Yongquan Wu. „Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework“. International Journal of Genomics 2020 (26.02.2020): 1–12. http://dx.doi.org/10.1155/2020/2415850.
Der volle Inhalt der QuelleBrown, Angela, Mansour Zamanpoor, Donald R. Love und Debra O. Prosser. „Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines“. Sultan Qaboos University Medical Journal [SQUMJ] 19, Nr. 4 (22.12.2019): 324. http://dx.doi.org/10.18295/squmj.2019.19.04.008.
Der volle Inhalt der QuelleCristofoli, Francesca, Elisa Sorrentino, Giulia Guerri, Roberta Miotto, Roberta Romanelli, Alessandra Zulian, Stefano Cecchin et al. „Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting“. Genes 12, Nr. 12 (25.11.2021): 1885. http://dx.doi.org/10.3390/genes12121885.
Der volle Inhalt der QuelleLiu, Yichuan, Hui-Qi Qu, Adam S. Wenocur, Jingchun Qu, Xiao Chang, Joseph Glessner, Patrick Sleiman, Lifeng Tian und Hakon Hakonarson. „Interpretation of Maturity-Onset Diabetes of the Young Genetic Variants Based on American College of Medical Genetics and Genomics Criteria: Machine-Learning Model Development“. JMIR Biomedical Engineering 5, Nr. 1 (01.12.2020): e20506. http://dx.doi.org/10.2196/20506.
Der volle Inhalt der QuelleTavtigian, Sean V., Marc S. Greenblatt, Steven M. Harrison, Robert L. Nussbaum, Snehit A. Prabhu, Kenneth M. Boucher und Leslie G. Biesecker. „Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework“. Genetics in Medicine 20, Nr. 9 (04.01.2018): 1054–60. http://dx.doi.org/10.1038/gim.2017.210.
Der volle Inhalt der QuelleLattante, Serena, Giuseppe Marangi, Paolo Niccolò Doronzio, Amelia Conte, Giulia Bisogni, Marcella Zollino und Mario Sabatelli. „High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines“. Genes 11, Nr. 10 (24.09.2020): 1123. http://dx.doi.org/10.3390/genes11101123.
Der volle Inhalt der QuelleDeMille, Desiree, Jamie McDonald, Carmelo Bernabeu, Hilary Racher, Carla Olivieri, Claudia Cantarini, Anna Sbalchiero et al. „Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1“. Human Mutation 2024 (18.05.2024): 1–13. http://dx.doi.org/10.1155/2024/3043736.
Der volle Inhalt der QuelleTavtigian, S. „Abstract ES3-1: Reclassifying VUS: New techniques can solve the puzzle once and for all“. Cancer Research 82, Nr. 4_Supplement (15.02.2022): ES3–1—ES3–1. http://dx.doi.org/10.1158/1538-7445.sabcs21-es3-1.
Der volle Inhalt der QuelleСпектор, М. А., Л. А. Ясько und А. Е. Друй. „The interpretation of somatic genetic variants identified with high-throughput sequencing of DNA from paediatric solid tumors“. Nauchno-prakticheskii zhurnal «Medicinskaia genetika, Nr. 3(224) (31.03.2021): 3–25. http://dx.doi.org/10.25557/2073-7998.2021.03.3-25.
Der volle Inhalt der QuelleHatton, Jessica N., Megan N. Frone, Hannah C. Cox, Stephanie B. Crowley, Susan Hiraki, Noriko N. Yokoyama, Noura S. Abul-Husn et al. „Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation“. Human Mutation 2023 (29.03.2023): 1–15. http://dx.doi.org/10.1155/2023/9537832.
Der volle Inhalt der QuelleLesmann, Hellen, Hannah Klinkhammer und Prof Dr med Dipl Phys Peter M. Krawitz. „The future role of facial image analysis in ACMG classification guidelines“. Medizinische Genetik 35, Nr. 2 (01.06.2023): 115–21. http://dx.doi.org/10.1515/medgen-2023-2014.
Der volle Inhalt der QuelleHirotsu, Yosuke, Udo Schmidt-Edelkraut, Hiroshi Nakagomi, Ikuko Sakamoto, Markus Hartenfeller, Ram Narang, Theodoros G. Soldatos et al. „Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide“. International Journal of Molecular Sciences 21, Nr. 11 (29.05.2020): 3895. http://dx.doi.org/10.3390/ijms21113895.
Der volle Inhalt der QuelleHuang, Yingzhao, Bowen Liu, Jile Shi, Sen Zhao, Kexin Xu, Liying Sun, Na Chen, Wen Tian, Jianguo Zhang und Nan Wu. „Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List“. Journal of Personalized Medicine 12, Nr. 9 (14.09.2022): 1503. http://dx.doi.org/10.3390/jpm12091503.
Der volle Inhalt der QuelleJi, Jianling, Ryan Schmidt, Westley Sherman, Ryan Peralta, Megan Roytman, Soheil Shams und Gordana Raca. „Automated classification of copy number variants based on 2019 ACMG standards“. Molecular Genetics and Metabolism 132 (April 2021): S287—S288. http://dx.doi.org/10.1016/s1096-7192(21)00531-x.
Der volle Inhalt der QuelleDent, C., A. Hills, J. Honeychurch, E. Watson, P. Dean, G. Woodward, M. Wadsley et al. „Standardising genetic variant classification for FH – application of the ACMG guidelines“. Atherosclerosis Supplements 28 (September 2017): e7. http://dx.doi.org/10.1016/j.atherosclerosissup.2017.08.012.
Der volle Inhalt der QuelleNykamp, Keith, Michael Anderson, Martin Powers, John Garcia, Blanca Herrera, Yuan-Yuan Ho, Yuya Kobayashi et al. „Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria“. Genetics in Medicine 19, Nr. 10 (11.05.2017): 1105–17. http://dx.doi.org/10.1038/gim.2017.37.
Der volle Inhalt der QuelleJoseph, Vijai, Vignesh Ravichandran und Kenneth Offit. „Pathogenicity of mutation analyzer (PathoMAN): A fast automation of germline genomic variant curation in clinical sequencing.“ Journal of Clinical Oncology 35, Nr. 15_suppl (20.05.2017): 1529. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.1529.
Der volle Inhalt der QuelleWestphal, Dominik Sebastian, Kathrin Pollmann, Christoph Marschall, Annette Wacker-Gussmann, Renate Oberhoffer-Fritz, Karl-Ludwig Laugwitz, Peter Ewert und Cordula Maria Wolf. „It Is Not Carved in Stone—The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies“. Journal of Cardiovascular Development and Disease 9, Nr. 2 (25.01.2022): 41. http://dx.doi.org/10.3390/jcdd9020041.
Der volle Inhalt der QuelleMelidis, Damianos P., Christian Landgraf, Gunnar Schmidt, Anja Schöner-Heinisch, Sandra von Hardenberg, Anke Lesinski-Schiedat, Wolfgang Nejdl und Bernd Auber. „GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss“. PLOS Computational Biology 18, Nr. 9 (21.09.2022): e1009785. http://dx.doi.org/10.1371/journal.pcbi.1009785.
Der volle Inhalt der QuelleNykamp, Keith, Michael Anderson, Martin Powers, John Garcia, Blanca Herrera, Yuan-Yuan Ho, Yuya Kobayashi et al. „Correction: Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria“. Genetics in Medicine 22, Nr. 1 (26.07.2019): 240. http://dx.doi.org/10.1038/s41436-019-0624-9.
Der volle Inhalt der QuelleKaralidou, Vasiliki, Despoina Kalfakakou, Athanasios Papathanasiou, Florentia Fostira und George K. Matsopoulos. „MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model“. Biomolecules 12, Nr. 11 (24.10.2022): 1552. http://dx.doi.org/10.3390/biom12111552.
Der volle Inhalt der QuelleMotta, Fabiana, Renan Martin, Fernanda Porto, Elizabeth Wohler, Rosane Resende, Caio Gomes, João Pesquero und Juliana Sallum. „Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy“. Genes 11, Nr. 1 (24.12.2019): 24. http://dx.doi.org/10.3390/genes11010024.
Der volle Inhalt der QuelleRossen, Jennifer L., Brenda L. Bohnsack, Kevin X. Zhang, Alexander Ing, Andy Drackley, Valerie Castelluccio und Hanta Ralay-Ranaivo. „Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts“. Genes 14, Nr. 3 (28.02.2023): 608. http://dx.doi.org/10.3390/genes14030608.
Der volle Inhalt der QuelleCornelis, Stéphanie S., Miriam Bauwens, Lonneke Haer-Wigman, Marieke De Bruyne, Madhulatha Pantrangi, Elfride De Baere, Robert B. Hufnagel, Claire-Marie Dhaenens und Frans P. M. Cremers. „Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework“. Human Mutation 2023 (26.12.2023): 1–12. http://dx.doi.org/10.1155/2023/6815504.
Der volle Inhalt der QuelleDavieson, Connor D., Katie E. Joyce, Lakshya Sharma und Claire L. Shovlin. „DNA variant classification–reconsidering “allele rarity” and “phenotype” criteria in ACMG/AMP guidelines“. European Journal of Medical Genetics 64, Nr. 10 (Oktober 2021): 104312. http://dx.doi.org/10.1016/j.ejmg.2021.104312.
Der volle Inhalt der QuelleBrandt, Tracy, Laura M. Sack, Dolores Arjona, Duanjun Tan, Hui Mei, Hong Cui, Hua Gao et al. „Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants“. Genetics in Medicine 22, Nr. 2 (19.09.2019): 336–44. http://dx.doi.org/10.1038/s41436-019-0655-2.
Der volle Inhalt der QuelleTavtigian, Sean V., Steven M. Harrison, Kenneth M. Boucher und Leslie G. Biesecker. „Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines“. Human Mutation 41, Nr. 10 (30.08.2020): 1734–37. http://dx.doi.org/10.1002/humu.24088.
Der volle Inhalt der QuelleVargas‐Parra, Gardenia, Jesús Valle, Paula Rofes, Mireia Gausachs, Agostina Stradella, José M. Moreno‐Cabrera, Angela Velasco et al. „Comprehensive analysis and ACMG‐based classification of CHEK2 variants in hereditary cancer patients“. Human Mutation 41, Nr. 12 (14.10.2020): 2128–42. http://dx.doi.org/10.1002/humu.24110.
Der volle Inhalt der QuelleNieto-Patlán, Alejandro, Lindsay Worley, William Hankey, Kyle Hilliard, Justine Siew, Lijun Wang, Bertrand Boisson et al. „177 ClinGen Framework for PIK3CD Variant Classification: Use of Adapted ACMG/AMP Guidelines“. Clinical Immunology 262 (Mai 2024): 110119. http://dx.doi.org/10.1016/j.clim.2024.110119.
Der volle Inhalt der QuelleLee, Jee-Soo, Sohee Oh, Sue Kyung Park, Min-Hyuk Lee, Jong Won Lee, Sung-Won Kim, Byung Ho Son et al. „Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort“. Journal of Medical Genetics 55, Nr. 12 (10.11.2018): 794–802. http://dx.doi.org/10.1136/jmedgenet-2018-105565.
Der volle Inhalt der QuelleVatsyayan, Aastha, Mukesh Kumar, Bhaskar Jyoti Saikia, Vinod Scaria und Binukumar B. K. „WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease“. PLOS ONE 19, Nr. 5 (17.05.2024): e0303787. http://dx.doi.org/10.1371/journal.pone.0303787.
Der volle Inhalt der QuelleRuffo, Paola, Benedetta Perrone und Francesca Luisa Conforti. „SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines“. Genes 13, Nr. 3 (18.03.2022): 537. http://dx.doi.org/10.3390/genes13030537.
Der volle Inhalt der QuelleGodley, Lucy, Xi Luo, Justyne Ross, Sarah Jackson, Anupriya Agarwal, Panagiotis Baliakas, Alison A. Bertuch et al. „Myeloid Malignancy Variant Curation Expert Panel: An ASH-Sponsored Clingen Expert Panel to Optimize and Validate Acmg/AMP Variant Interpretation Guidelines for Genes Associated with Inherited Myeloid Neoplasms“. Blood 132, Supplement 1 (29.11.2018): 5849. http://dx.doi.org/10.1182/blood-2018-99-118979.
Der volle Inhalt der QuelleRoss, Justyne E., Bing M. Zhang, Kristy Lee, Shruthi Mohan, Brian R. Branchford, Paul Bray, Stefanie N. Dugan et al. „Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel“. Blood Advances 5, Nr. 2 (20.01.2021): 414–31. http://dx.doi.org/10.1182/bloodadvances.2020003712.
Der volle Inhalt der QuelleSchmidt-Edelkraut, Udo, Elena Ioana Braicu, Sajo Kaduthanam, Salvador Santiago-Mozos, Markus Hartenfeller, Ram Narang, Martin Stein et al. „Confident BRCA1/2 variant classification: using ACMG and public data for systematic molecular profiling“. Annals of Oncology 29 (Oktober 2018): vii71. http://dx.doi.org/10.1093/annonc/mdy375.025.
Der volle Inhalt der QuelleBrandt, Tracy, Laura M. Sack, Dolores Arjona, Duanjun Tan, Hui Mei, Hong Cui, Hua Gao et al. „Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants“. Genetics in Medicine 22, Nr. 3 (17.12.2019): 670–71. http://dx.doi.org/10.1038/s41436-019-0725-5.
Der volle Inhalt der QuelleDickson, Alexa, Meagan Corliss, Jonathan Heusel, Ellen Ziegemeier, Jorge Llibre-Guerra, Alison Goate, Carlos Cruchaga et al. „P430: Application of ACMG/AMP variant classification guidelines to Alzheimer’s disease-associated genetic variation“. Genetics in Medicine Open 1, Nr. 1 (2023): 100477. http://dx.doi.org/10.1016/j.gimo.2023.100477.
Der volle Inhalt der QuelleWalker, Romy, Khalid Mahmood, Julia Como, Mark Clendenning, Jihoon E. Joo, Peter Georgeson, Sharelle Joseland et al. „DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands“. Cancers 15, Nr. 20 (10.10.2023): 4925. http://dx.doi.org/10.3390/cancers15204925.
Der volle Inhalt der QuelleKirkland, Nathan, Marzia Pasquali, Rong Mao, Elena Coupal und Kianoush Sadre-Bazzaz. „Classification of variants in ACADVL following the 2015 ACMG variant classification guidelines and correlation with clinical and biochemical data“. Molecular Genetics and Metabolism 132 (April 2021): S31. http://dx.doi.org/10.1016/s1096-7192(21)00130-x.
Der volle Inhalt der QuelleHopkins, Jasmin J., Matthew N. Wakeling, Matthew B. Johnson, Sarah E. Flanagan und Thomas W. Laver. „REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants“. Human Mutation 2023 (04.12.2023): 1–6. http://dx.doi.org/10.1155/2023/8857940.
Der volle Inhalt der QuelleFroyen, 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, Nr. 12 (16.12.2019): 2030. http://dx.doi.org/10.3390/cancers11122030.
Der volle Inhalt der QuelleLopez-Perolio, Irene, Raphaël Leman, Raquel Behar, Vanessa Lattimore, John F. Pearson, Laurent Castéra, Alexandra Martins et al. „Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report“. Journal of Medical Genetics 56, Nr. 7 (19.03.2019): 453–60. http://dx.doi.org/10.1136/jmedgenet-2018-105834.
Der volle Inhalt der QuelleAbad Baucells, Clàudia, Ria Schönauer und Jan Halbritter. „The genetics of cystinuria – an update and critical reevaluation“. Current Opinion in Nephrology & Hypertension 33, Nr. 2 (06.11.2023): 231–37. http://dx.doi.org/10.1097/mnh.0000000000000949.
Der volle Inhalt der QuelleAmendola, Laura M., Kathleen Muenzen, Leslie G. Biesecker, Kevin M. Bowling, Greg M. Cooper, Michael O. Dorschner, Catherine Driscoll et al. „Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies“. American Journal of Human Genetics 107, Nr. 5 (November 2020): 932–41. http://dx.doi.org/10.1016/j.ajhg.2020.09.011.
Der volle Inhalt der QuelleLyra, Paulo, Lucas Dalcolmo, Michael Parsons, Thales Nepomuceno, Samuel Brito, Nam Phuong N. Nguyen, Geise de Oliveira et al. „Abstract 7325: Integration of functional data to classify BRCA1/2 missense variants: An ENIGMA project“. Cancer Research 84, Nr. 6_Supplement (22.03.2024): 7325. http://dx.doi.org/10.1158/1538-7445.am2024-7325.
Der volle Inhalt der QuelleBhasin, Meghna Ahuja, Alexej Knaus, Pietro Incardona, Alexander Schmid, Manuel Holtgrewe, Miriam Elbracht, Peter M. Krawitz und Tzung-Chien Hsieh. „Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis“. Genes 15, Nr. 3 (17.03.2024): 370. http://dx.doi.org/10.3390/genes15030370.
Der volle Inhalt der QuelleOsundiji, Mayowa, Jessie Cameron, Rory Olson, Bukola Olarewaju und Andreas Schulze. „P046: ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics“. Genetics in Medicine Open 2 (2024): 100923. http://dx.doi.org/10.1016/j.gimo.2024.100923.
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