275 related articles for article (PubMed ID: 31732716)
1. Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Bean LJH; Funke B; Carlston CM; Gannon JL; Kantarci S; Krock BL; Zhang S; Bayrak-Toydemir P;
Genet Med; 2020 Mar; 22(3):453-461. PubMed ID: 31732716
[TBL] [Abstract][Full Text] [Related]
2. Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Rehder C; Bean LJH; Bick D; Chao E; Chung W; Das S; O'Daniel J; Rehm H; Shashi V; Vincent LM;
Genet Med; 2021 Aug; 23(8):1399-1415. PubMed ID: 33927380
[TBL] [Abstract][Full Text] [Related]
3. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Riggs ER; Andersen EF; Cherry AM; Kantarci S; Kearney H; Patel A; Raca G; Ritter DI; South ST; Thorland EC; Pineda-Alvarez D; Aradhya S; Martin CL
Genet Med; 2020 Feb; 22(2):245-257. PubMed ID: 31690835
[TBL] [Abstract][Full Text] [Related]
4. CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Deignan JL; Astbury C; Cutting GR; Del Gaudio D; Gregg AR; Grody WW; Monaghan KG; Richards S;
Genet Med; 2020 Aug; 22(8):1288-1295. PubMed ID: 32404922
[TBL] [Abstract][Full Text] [Related]
5. PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels.
Schmidtke J; Philipp P; Rommel K; Glaubitz R; Epplen JT; Krawczak M
Genes (Basel); 2022 Apr; 13(4):. PubMed ID: 35456490
[TBL] [Abstract][Full Text] [Related]
6. Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Zhang S; Taylor AK; Huang X; Luo B; Spector EB; Fang P; Richards CS;
Genet Med; 2018 Dec; 20(12):1489-1498. PubMed ID: 30297698
[TBL] [Abstract][Full Text] [Related]
7. CCMG practice guideline: laboratory guidelines for next-generation sequencing.
Hume S; Nelson TN; Speevak M; McCready E; Agatep R; Feilotter H; Parboosingh J; Stavropoulos DJ; Taylor S; Stockley TL;
J Med Genet; 2019 Dec; 56(12):792-800. PubMed ID: 31300550
[TBL] [Abstract][Full Text] [Related]
8. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S; Aziz N; Bale S; Bick D; Das S; Gastier-Foster J; Grody WW; Hegde M; Lyon E; Spector E; Voelkerding K; Rehm HL;
Genet Med; 2015 May; 17(5):405-24. PubMed ID: 25741868
[TBL] [Abstract][Full Text] [Related]
9. Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Gallagher RC; Pollard L; Scott AI; Huguenin S; Goodman S; Sun Q;
Genet Med; 2018 Jul; 20(7):683-691. PubMed ID: 29543224
[TBL] [Abstract][Full Text] [Related]
10. ACMG clinical laboratory standards for next-generation sequencing.
Rehm HL; Bale SJ; Bayrak-Toydemir P; Berg JS; Brown KK; Deignan JL; Friez MJ; Funke BH; Hegde MR; Lyon E;
Genet Med; 2013 Sep; 15(9):733-47. PubMed ID: 23887774
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Amendola LM; Jarvik GP; Leo MC; McLaughlin HM; Akkari Y; Amaral MD; Berg JS; Biswas S; Bowling KM; Conlin LK; Cooper GM; Dorschner MO; Dulik MC; Ghazani AA; Ghosh R; Green RC; Hart R; Horton C; Johnston JJ; Lebo MS; Milosavljevic A; Ou J; Pak CM; Patel RY; Punj S; Richards CS; Salama J; Strande NT; Yang Y; Plon SE; Biesecker LG; Rehm HL
Am J Hum Genet; 2016 Jun; 98(6):1067-1076. PubMed ID: 27181684
[TBL] [Abstract][Full Text] [Related]
13. Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
Maxwell KN; Hart SN; Vijai J; Schrader KA; Slavin TP; Thomas T; Wubbenhorst B; Ravichandran V; Moore RM; Hu C; Guidugli L; Wenz B; Domchek SM; Robson ME; Szabo C; Neuhausen SL; Weitzel JN; Offit K; Couch FJ; Nathanson KL
Am J Hum Genet; 2016 May; 98(5):801-817. PubMed ID: 27153395
[TBL] [Abstract][Full Text] [Related]
14. Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).
Bush LW; Beck AE; Biesecker LG; Evans JP; Hamosh A; Holm IA; Martin CL; Richards CS; Rehm HL
Genet Med; 2018 Feb; 20(2):169-171. PubMed ID: 29323668
[TBL] [Abstract][Full Text] [Related]
15. Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.
Jennings LJ; Arcila ME; Corless C; Kamel-Reid S; Lubin IM; Pfeifer J; Temple-Smolkin RL; Voelkerding KV; Nikiforova MN
J Mol Diagn; 2017 May; 19(3):341-365. PubMed ID: 28341590
[TBL] [Abstract][Full Text] [Related]
16. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.
Xue Y; Ankala A; Wilcox WR; Hegde MR
Genet Med; 2015 Jun; 17(6):444-51. PubMed ID: 25232854
[TBL] [Abstract][Full Text] [Related]
17. [Towards a national standardisation of NGS studies in the diagnosis of myopathies].
Krahn M; Cerino M; Campana-Salort E; Cossée M
Med Sci (Paris); 2017 Nov; 33 Hors série n°1():30-33. PubMed ID: 29139383
[No Abstract] [Full Text] [Related]
18. Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG).
Deignan JL; Chung WK; Kearney HM; Monaghan KG; Rehder CW; Chao EC;
Genet Med; 2019 Jun; 21(6):1267-1270. PubMed ID: 31015575
[No Abstract] [Full Text] [Related]
19. Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing.
Mu W; Lu HM; Chen J; Li S; Elliott AM
J Mol Diagn; 2016 Nov; 18(6):923-932. PubMed ID: 27720647
[TBL] [Abstract][Full Text] [Related]
20. Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
De Biase I; Tortorelli S; Kratz L; J Steinberg S; Cusmano-Ozog K; Braverman N;
Genet Med; 2020 Apr; 22(4):686-697. PubMed ID: 31822849
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
