دورية أكاديمية
Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories.
| العنوان: | Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories. |
|---|---|
| المؤلفون: | Santani A; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address: santani@email.chop.edu., Simen BB; Veritas Genetics, Danvers, Massachusetts., Briggs M; Proficiency Testing Department, College of American Pathologists, Northfield, Illinois., Lebo M; Department of Pathology, Harvard Medical School/Brigham and Women's Hospital, Boston, Massachusetts., Merker JD; Department of Pathology and Laboratory Medicine, Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina., Nikiforova M; Department of Molecular & Genomic Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania., Vasalos P; Proficiency Testing Department, College of American Pathologists, Northfield, Illinois., Voelkerding K; Department of Pathology, University of Utah School of Medicine/ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah., Pfeifer J; Department of Pathology, Washington University School of Medicine, St. Louis, Missouri., Funke B; Veritas Genetics, Danvers, Massachusetts; Department of Pathology, Harvard Medical School/Massachusetts General Hospital, Boston, Massachusetts. Electronic address: bfunke@veritasgenetics.com. |
| المصدر: | The Journal of molecular diagnostics : JMD [J Mol Diagn] 2019 May; Vol. 21 (3), pp. 369-374. Date of Electronic Publication: 2018 Dec 31. |
| نوع المنشور: | Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2011- : New York : Elsevier Original Publication: Bethesda, MD : American Society for Investigative Pathology and the Association for Molecular Pathology, 1999- |
| مواضيع طبية MeSH: | Clinical Laboratory Services* , Guidelines as Topic* , Research Design*, Genetic Diseases, Inborn/*diagnosis , High-Throughput Nucleotide Sequencing/*methods, Computational Biology ; Humans |
| مستخلص: | Comprehensive next-generation sequencing (NGS) tests are increasingly used as first-line tests in the evaluation of patients with suspected heritable disease. Despite major technical simplifications, these assays still pose significant challenges for molecular testing laboratories. Existing professional guidelines and recommendations provide a framework for laboratories implementing such tests, but in-depth, concrete guidance is generally not provided. Consequently, there is variability in how laboratories interpret and subsequently implement these regulatory frameworks. To address the need for more detailed guidance, the College of American Pathologists with representation from the Association for Molecular Pathologists assembled a working group to create a practical resource for clinical laboratories. This initial work is focused on variant detection in the setting of inherited disease and provides structured worksheets that guide the user through the entire life cycle of an NGS test, including design, optimization, validation, and quality management with additional guidance for clinical bioinformatics. This resource is designed to be a living document that is publicly available and will be updated with user and expert feedback as the wet bench and bioinformatic landscapes continue to evolve. It is intended to facilitate the standardization of NGS testing across laboratories and therefore to improve patient care. (Copyright © 2019 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.) |
| تواريخ الأحداث: | Date Created: 20190104 Date Completed: 20200618 Latest Revision: 20200618 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1016/j.jmoldx.2018.11.004 |
| PMID: | 30605766 |
| قاعدة البيانات: | MEDLINE |
Full Text via ClinicalKey 
Full Text Finder | تدمد: | 1943-7811 |
|---|---|
| DOI: | 10.1016/j.jmoldx.2018.11.004 |