These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
125 related articles for article (PubMed ID: 37628650)
1. MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations. Cristofoli F; Daja M; Maltese PE; Guerri G; Tanzi B; Miotto R; Bonetti G; Miertus J; Chiurazzi P; Stuppia L; Gatta V; Cecchin S; Bertelli M; Marceddu G Genes (Basel); 2023 Aug; 14(8):. PubMed ID: 37628650 [TBL] [Abstract][Full Text] [Related]
2. Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting. Cristofoli F; Sorrentino E; Guerri G; Miotto R; Romanelli R; Zulian A; Cecchin S; Paolacci S; Miertus J; Bertelli M; Maltese PE; Chiurazzi P; Stuppia L; Castori M; Marceddu G Genes (Basel); 2021 Nov; 12(12):. PubMed ID: 34946832 [TBL] [Abstract][Full Text] [Related]
3. Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections. Ponińska JK; Bilińska ZT; Truszkowska G; Michalak E; Podgórska A; Stępień-Wojno M; Chmielewski P; Lutyńska A; Płoski R J Transl Med; 2022 Jan; 20(1):42. PubMed ID: 35078481 [TBL] [Abstract][Full Text] [Related]
4. Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment. Stawiński P; Płoski R Clin Genet; 2024 Aug; 106(2):119-126. PubMed ID: 38440907 [TBL] [Abstract][Full Text] [Related]
5. Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework. Tavtigian SV; Greenblatt MS; Harrison SM; Nussbaum RL; Prabhu SA; Boucher KM; Biesecker LG; Genet Med; 2018 Sep; 20(9):1054-1060. PubMed ID: 29300386 [TBL] [Abstract][Full Text] [Related]
10. Refinement of the assignment to the ACMG/AMP BS3 and PS3 criteria of eight Caleca L; Radice P Front Oncol; 2023; 13():1146604. PubMed ID: 37168384 [TBL] [Abstract][Full Text] [Related]
11. Cruxome: a powerful tool for annotating, interpreting and reporting genetic variants. Han Q; Yang Y; Wu S; Liao Y; Zhang S; Liang H; Cram DS; Zhang Y BMC Genomics; 2021 Jun; 22(1):407. PubMed ID: 34082700 [TBL] [Abstract][Full Text] [Related]
12. Expanding ACMG variant classification guidelines into a general framework. Masson E; Zou WB; Génin E; Cooper DN; Le Gac G; Fichou Y; Pu N; Rebours V; Férec C; Liao Z; Chen JM Hum Genomics; 2022 Aug; 16(1):31. PubMed ID: 35974416 [TBL] [Abstract][Full Text] [Related]
13. AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants. Xiang J; Peng J; Baxter S; Peng Z Hum Mutat; 2020 Sep; 41(9):1488-1498. PubMed ID: 32442321 [TBL] [Abstract][Full Text] [Related]
14. Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants. Romanet P; Odou MF; North MO; Saveanu A; Coppin L; Pasmant E; Mohamed A; Goudet P; Borson-Chazot F; Calender A; Béroud C; Lévy N; Giraud S; Barlier A Hum Mutat; 2019 Jun; 40(6):661-674. PubMed ID: 30869828 [TBL] [Abstract][Full Text] [Related]
15. DNA variant classification-reconsidering "allele rarity" and "phenotype" criteria in ACMG/AMP guidelines. Davieson CD; Joyce KE; Sharma L; Shovlin CL Eur J Med Genet; 2021 Oct; 64(10):104312. PubMed ID: 34411772 [TBL] [Abstract][Full Text] [Related]
16. Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. Brandt T; Sack LM; Arjona D; Tan D; Mei H; Cui H; Gao H; Bean LJH; Ankala A; Del Gaudio D; Knight Johnson A; Vincent LM; Reavey C; Lai A; Richard G; Meck JM Genet Med; 2020 Feb; 22(2):336-344. PubMed ID: 31534211 [TBL] [Abstract][Full Text] [Related]
17. Systematic large-scale application of ClinGen InSiGHT Yin X; Richardson M; Laner A; Shi X; Ognedal E; Vasta V; Hansen TVO; Pineda M; Ritter D; den Dunnen JT; Hassanin E; Lyman Lin W; Borras E; Krahn K; Nordling M; Martins A; Mahmood K; Nadeau EAW; Beshay V; Tops C; Genuardi M; Pesaran T; Frayling IM; Capellá G; Latchford A; Tavtigian SV; Maj C; Plon SE; Greenblatt MS; Macrae FA; Spier I; Aretz S medRxiv; 2024 May; ():. PubMed ID: 38746299 [TBL] [Abstract][Full Text] [Related]
18. Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. Ghosh R; Oak N; Plon SE Genome Biol; 2017 Nov; 18(1):225. PubMed ID: 29179779 [TBL] [Abstract][Full Text] [Related]
19. Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies. Amendola LM; Muenzen K; Biesecker LG; Bowling KM; Cooper GM; Dorschner MO; Driscoll C; Foreman AKM; Golden-Grant K; Greally JM; Hindorff L; Kanavy D; Jobanputra V; Johnston JJ; Kenny EE; McNulty S; Murali P; Ou J; Powell BC; Rehm HL; Rolf B; Roman TS; Van Ziffle J; Guha S; Abhyankar A; Crosslin D; Venner E; Yuan B; Zouk H; ; Jarvik GP Am J Hum Genet; 2020 Nov; 107(5):932-941. PubMed ID: 33108757 [TBL] [Abstract][Full Text] [Related]