Informace o publikaci

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

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

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: