Thalassemias | October 3, 2022
Library preparation
Library preparation entails preparing targeted DNA fragments labeled with patient-specific molecular barcodes to allow identification during data analysis. Since library quality is fundamental to NGS success, it is advisable to review and compare NGS library preparation protocols before making your selection. A protocol with few steps and a minimum of hands-on time can reduce the need for time-consuming quality assurance and error proofing without compromising library quality.
Sequencing
The sequencing step is straightforward, Once the sequencing chip or flow-cell has been prepared and the run initiated, the process is fully automated. Run times vary depending on the sequencing system, the number of samples being run and the protocol set-up, but can range from hours to several days.
Data analysis
NGS generates large quantities of raw data, which must then be processed and analyzed to identify the presence or absence of genetic variants and their functional annotations. For clinical applications, regulatory compliance of the analytical software is also essential. To help routine diagnostics labs transition to NGS, Devyser has partnered with leading analytical software providers to enable Devyser NGS applications on popular analytical platforms such as Amplicon Suite.
