Quality control in diagnostic NGS applications

Massive parallel sequencing ("Next Generation" Sequencing, NGS) became the main method for analysis of DNA/RNA sequence and copy number changes in biological samples. NGS is now widely used in diagnostics (genetics, oncology, microbiology) and this application field is still rapidly growing. Very fast adoption of relatively new technique in laboratories led to delay in development of effective quality control tools. Diagnostic applications require high confidence and high reproducibility in the whole analytical process (in conformity with EN ISO 15189 norm). Development of efficient quality control methods is important as it should ensure results confidence (both positive and negative results) and reduce the analysis cost. Quality control for diagnostic applications must include implementation of external quality control test, validation/verification rules for implementation of new methods and tools for fast evaluation of data to detect outliers and trends.

Diagnostic NGS combines molecular biology and genetics with bioinformatics and medicine, CF Genomics CEITEC MU is ISO 15189 accredited diagnostic laboratory with several NGS based methods implemented and also collaborates on large national projects for mapping genetic diversity (NCMG, A-C-G-T - 1000 genomes sequencing).

RG: Core Facility Genomics

Keywords: NGS, diagnostics, whole genome sequencing, exome sequencing, liquid biopsies

Applicants who wish to pursue a degree at the CEITEC PhD programme must hold the equivalent of a Master’s degree (MSc) in similar field (four or five year undergraduate degree). The application can be submitted before obtaining the Master’s degree, however, the applicant should obtain the degree within five month after the application deadline.