Quality control and quantification in IG/TR next-generation sequencing marker identification: protocols and bioinformatic functionalities by EuroClonality-NGS

Varování

Publikace nespadá pod Ústav výpočetní techniky, ale pod Středoevropský technologický institut. Oficiální stránka publikace je na webu muni.cz.

Autoři	KNECHT H. REIGL Tomáš KOTROVA M. APPELT F. STEWART P. BYSTRÝ Vojtěch KREJČÍ Adam GRIONI A. PÁL Karol STRÁNSKÁ Kamila PLEVOVÁ Karla RIJNTJES J. SONGIA S. SVATON M. FRONKOVA E. BARTRAM J. SCHEIJEN B. HERRMANN D. GARCIA-SANZ R. HANCOCK J. MOPPETT J. VAN DONGEN J.J.M. CAZZANIGA G. DAVI F. GROENEN P.J.T.A. HUMMEL M. MACINTYRE E.A. STAMATOPOULOS K. TRKA J. LANGERAK A.W. GONZALEZ D. POTT C. BRUGGEMANN M. DARZENTAS Nikos
Rok publikování	2019
Druh	Článek v odborném periodiku
Časopis / Zdroj	Leukemia
Fakulta / Pracoviště MU	Středoevropský technologický institut
Citace
www	https://www.nature.com/articles/s41375-019-0499-4.pdf
Doi	http://dx.doi.org/10.1038/s41375-019-0499-4
Klíčová slova	MINIMAL RESIDUAL DISEASE; ACUTE LYMPHOBLASTIC-LEUKEMIA; CELL LYMPHOMA; IMMUNOGLOBULIN; PCR; STANDARDIZATION; PRIMERS; RELAPSE; RISK
Popis	Assessment of clonality, marker identification and measurement of minimal residual disease (MRD) of immunoglobulin (IG) and T cell receptor (TR) gene rearrangements in lymphoid neoplasms using next-generation sequencing (NGS) is currently under intensive development for use in clinical diagnostics. So far, however, there is a lack of suitable quality control (QC) options with regard to standardisation and quality metrics to ensure robust clinical application of such approaches. The EuroClonality-NGS Working Group has therefore established two types of QCs to accompany the NGS-based IG/TR assays. First, a central polytarget QC (cPT-QC) is used to monitor the primer performance of each of the EuroClonality multiplex NGS assays; second, a standardised human cell line-based DNA control is spiked into each patient DNA sample to work as a central in-tube QC and calibrator for MRD quantification (cIT-QC). Having integrated those two reference standards in the ARResT/Interrogate bioinformatic platform, EuroClonality-NGS provides a complete protocol for standardised IG/TR gene rearrangement analysis by NGS with high reproducibility, accuracy and precision for valid marker identification and quantification in diagnostics of lymphoid malignancies.
Související projekty:	CERIT Scientific Cloud Encyklopedie CLL podskupin: unikátní znalostní databáze vybavená bioinformatickými nástroji použitelná v personalizované biomedicíně a klinické praxi