Lekárska genetika a diagnostika 2/2024

Massively parallel short- and long-read sequencing technologies as tools for genomic medicine

Nucleic acid sequencing is now considered a key tool in modern biology and biomedicine, providing detailed information about organisms’ genomes. Due to yearly technological advances and favorable affordability, the spectrum of applications of massively parallel sequencing is continuously expanding and it is also becoming increasingly part of clinical practice. In this paper, we discuss the basic principles, technologies, different sequencing strategies, basic clinical applications, current trends, technical limitations, and challenges in the field of genomic medicine.

Keywords: NGS, short-read sequencing, long-read sequencing, massively parallel sequencing, whole genome sequencing