Aug 2026· Laboratoriums Medizin· Vol 57 5· 0 citations
Medicine
TL;DR
This work sought to systematically apply CAP laboratory-developed test validation requirements for next-generating sequencing to targeted CFTR gene sequencing on an Illumina iSeq100 Sequencing System and to address assay-specific translational guidance gaps.
The current state of NGS reporting practices was profiled across Genomics Organization for Academic Laboratories (GOAL) members to promote harmonization and considerations for best practices are presented.
Celeste C. Eno, R. Sompallae, Daniel Jones et al.· Journal of Molecular Diagnos...· 0 citations
This mini-review synthesizes validation and regulatory challenges unique to mNGS-based diagnostics and describes how laboratories and developers currently navigate available pathways, focusing on core analytical and clinical validation challenges.
Nick P. G. Gauthier, Vishal Kapoor, David C. Gaston et al.· Journal of Clinical Microbio...· 0 citations
STRATUM offers a consequence-tiered model for quality and reporting in applied metagenomics, supporting reproducible, transparent, and defensible sequencing-based surveillance across public health and biodefense domains.
J. A. Russell, I. Keenum, Karen G. Jarvis et al.· Journal of AOAC Internationa...· 0 citations
The feasibility and validation of a two-day TAT NGS-based cfTNA assay that can potentially reduce time-to-treatment is reported that can potentially reduce time-to-treatment.
S. Roy-Chowdhuri, Ana Galán-Cobo, N. Agarwal et al.· Journal of Molecular Diagnos...· 0 citations
ABSTRACT Whenever next generation sequencing is used in clinical and public health laboratories, rigorous quality control and quality assurance are key components of a quality management system. However, both the development and maintenance of a quality management system encompassing next generation sequencing present...
Blake Cherney, Ariel Díaz, Christopher Ghattas et al.· Journal of Clinical Microbio...· 0 citations
Some of the recent work on dPCR-based RMPs are described and how this can be applied to improve nucleic acid analysis measurements on a global scale in EQA schemes, clinical laboratories and harmonization studies for infectious disease diagnostics are discussed.
S. Falak, D. O'Sullivan, M. Cleveland et al.· 150th anniversary of the Met...· 0 citations
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