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Academic literature on the topic 'ACMG classification'
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Journal articles on the topic "ACMG classification"
Lugeiro, Palloma C., Betsaida Urtremari, Lucas S. Santana, Elisangela P. S. Quedas, and 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 (2021): A1014. http://dx.doi.org/10.1210/jendso/bvab048.2074.
Full textCristofoli, Francesca, Muharrem Daja, Paolo Enrico Maltese, et al. "MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations." Genes 14, no. 8 (2023): 1600. http://dx.doi.org/10.3390/genes14081600.
Full textMattivi, Connor L., J. Martijn Bos, Richard D. Bagnall, et al. "Clinical Utility of a Phenotype-Enhanced MYH7 -Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing." Circulation: Genomic and Precision Medicine 13, no. 5 (2020): 453–59. http://dx.doi.org/10.1161/circgen.120.003039.
Full textCheng, Liting, Xiaoyan Li, Lin Zhao, et al. "Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework." International Journal of Genomics 2020 (February 26, 2020): 1–12. http://dx.doi.org/10.1155/2020/2415850.
Full textBrown, Angela, Mansour Zamanpoor, Donald R. Love, and 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, no. 4 (2019): 324. http://dx.doi.org/10.18295/squmj.2019.19.04.008.
Full textCristofoli, Francesca, Elisa Sorrentino, Giulia Guerri, et al. "Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting." Genes 12, no. 12 (2021): 1885. http://dx.doi.org/10.3390/genes12121885.
Full textLiu, Yichuan, Hui-Qi Qu, Adam S. Wenocur, et al. "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, no. 1 (2020): e20506. http://dx.doi.org/10.2196/20506.
Full textTavtigian, Sean V., Marc S. Greenblatt, Steven M. Harrison, et al. "Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework." Genetics in Medicine 20, no. 9 (2018): 1054–60. http://dx.doi.org/10.1038/gim.2017.210.
Full textLattante, Serena, Giuseppe Marangi, Paolo Niccolò Doronzio, et al. "High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines." Genes 11, no. 10 (2020): 1123. http://dx.doi.org/10.3390/genes11101123.
Full textDeMille, Desiree, Jamie McDonald, Carmelo Bernabeu, et al. "Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1." Human Mutation 2024 (May 18, 2024): 1–13. http://dx.doi.org/10.1155/2024/3043736.
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