162 related articles for article (PubMed ID: 30605766)
1. Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories.
Santani A; Simen BB; Briggs M; Lebo M; Merker JD; Nikiforova M; Vasalos P; Voelkerding K; Pfeifer J; Funke B
J Mol Diagn; 2019 May; 21(3):369-374. PubMed ID: 30605766
[TBL] [Abstract][Full Text] [Related]
2. College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.
Aziz N; Zhao Q; Bry L; Driscoll DK; Funke B; Gibson JS; Grody WW; Hegde MR; Hoeltge GA; Leonard DG; Merker JD; Nagarajan R; Palicki LA; Robetorye RS; Schrijver I; Weck KE; Voelkerding KV
Arch Pathol Lab Med; 2015 Apr; 139(4):481-93. PubMed ID: 25152313
[TBL] [Abstract][Full Text] [Related]
3. Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists.
Roy S; Coldren C; Karunamurthy A; Kip NS; Klee EW; Lincoln SE; Leon A; Pullambhatla M; Temple-Smolkin RL; Voelkerding KV; Wang C; Carter AB
J Mol Diagn; 2018 Jan; 20(1):4-27. PubMed ID: 29154853
[TBL] [Abstract][Full Text] [Related]
4. Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.
Santani A; Murrell J; Funke B; Yu Z; Hegde M; Mao R; Ferreira-Gonzalez A; Voelkerding KV; Weck KE
Arch Pathol Lab Med; 2017 Jun; 141(6):787-797. PubMed ID: 28322587
[TBL] [Abstract][Full Text] [Related]
5. Review of Clinical Next-Generation Sequencing.
Yohe S; Thyagarajan B
Arch Pathol Lab Med; 2017 Nov; 141(11):1544-1557. PubMed ID: 28782984
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Validation of Metagenomic Next-Generation Sequencing Tests for Universal Pathogen Detection.
Schlaberg R; Chiu CY; Miller S; Procop GW; Weinstock G; ;
Arch Pathol Lab Med; 2017 Jun; 141(6):776-786. PubMed ID: 28169558
[TBL] [Abstract][Full Text] [Related]
8. Clinical validation of targeted next-generation sequencing for inherited disorders.
Yohe S; Hauge A; Bunjer K; Kemmer T; Bower M; Schomaker M; Onsongo G; Wilson J; Erdmann J; Zhou Y; Deshpande A; Spears MD; Beckman K; Silverstein KA; Thyagarajan B
Arch Pathol Lab Med; 2015 Feb; 139(2):204-10. PubMed ID: 25611102
[TBL] [Abstract][Full Text] [Related]
9. Assembling and Validating Bioinformatic Pipelines for Next-Generation Sequencing Clinical Assays.
SoRelle JA; Wachsmann M; Cantarel BL
Arch Pathol Lab Med; 2020 Sep; 144(9):1118-1130. PubMed ID: 32045276
[TBL] [Abstract][Full Text] [Related]
10. Practical Guidance to Implementing Quality Management Systems in Public Health Laboratories Performing Next-Generation Sequencing: Personnel, Equipment, and Process Management (Phase 1).
Hutchins RJ; Phan KL; Saboor A; Miller JD; Muehlenbachs A;
J Clin Microbiol; 2019 Aug; 57(8):. PubMed ID: 31142608
[TBL] [Abstract][Full Text] [Related]
11. Next-Generation Sequencing Informatics: Challenges and Strategies for Implementation in a Clinical Environment.
Roy S; LaFramboise WA; Nikiforov YE; Nikiforova MN; Routbort MJ; Pfeifer J; Nagarajan R; Carter AB; Pantanowitz L
Arch Pathol Lab Med; 2016 Sep; 140(9):958-75. PubMed ID: 26901284
[TBL] [Abstract][Full Text] [Related]
12. Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.
Hegde M; Santani A; Mao R; Ferreira-Gonzalez A; Weck KE; Voelkerding KV
Arch Pathol Lab Med; 2017 Jun; 141(6):798-805. PubMed ID: 28362156
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
Centers for Disease Control and Prevention (CDC)
MMWR Recomm Rep; 2012 Apr; 61(RR-2):1-44. PubMed ID: 22475884
[TBL] [Abstract][Full Text] [Related]
15. Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories.
Weiss MM; Van der Zwaag B; Jongbloed JD; Vogel MJ; Brüggenwirth HT; Lekanne Deprez RH; Mook O; Ruivenkamp CA; van Slegtenhorst MA; van den Wijngaard A; Waisfisz Q; Nelen MR; van der Stoep N
Hum Mutat; 2013 Oct; 34(10):1313-21. PubMed ID: 23776008
[TBL] [Abstract][Full Text] [Related]
16. Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges.
de Koning TJ; Jongbloed JD; Sikkema-Raddatz B; Sinke RJ
Expert Rev Mol Diagn; 2015 Jan; 15(1):61-70. PubMed ID: 25367078
[TBL] [Abstract][Full Text] [Related]
17. Assuring the Quality of Next-Generation Sequencing in Clinical Microbiology and Public Health Laboratories.
Gargis AS; Kalman L; Lubin IM
J Clin Microbiol; 2016 Dec; 54(12):2857-2865. PubMed ID: 27510831
[TBL] [Abstract][Full Text] [Related]
18. Four-Year Laboratory Performance of the First College of American Pathologists In Silico Next-Generation Sequencing Bioinformatics Proficiency Testing Surveys.
Furtado LV; Souers RJ; Vasalos P; Halley JG; Aisner DL; Nagarajan R; Voelkerding KV; Merker JD; Konnick EQ
Arch Pathol Lab Med; 2023 Feb; 147(2):137-142. PubMed ID: 35671151
[TBL] [Abstract][Full Text] [Related]
19. [A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (2) - Sample collection, processing and detection].
Zeng X; Xu Z; Huang H; Qu W; Wu J; Wang J; Gao Y; An D; Wang X; Xiong H; Shen Y; Qi M; Deng X; Xu X; Sun L; Peng Z; Gu W; Huang S; Yu S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Mar; 37(3):339-344. PubMed ID: 32128755
[TBL] [Abstract][Full Text] [Related]
20. [A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (3) - Data analysis].
Sun J; Huang Y; Wang X; Li W; An D; Gao Y; Xiong H; Zhou Z; Xu X; Deng X; Wang X; Huang H; Peng Z; Zhang W; Yu S; Wang L; Gu W; Huang S; Shen Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Mar; 37(3):345-351. PubMed ID: 32128756
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]