Step 1: Sample preparation
Step 2: Target enrichment and library preparation
Step 3: Validation
NGS comes with many challenges that scientists must address. Defining guidelines and sharing best practice help guide researchers new to NGS and ensure the quality and relevance of the NGS results when shared. This selection of articles and reviews provide resources for assay design, quality assurance, quality control, data management and results analysis and interpretation.
- Matthijs, G. et al. 2016. Guidelines for next-generation sequencing. European Journal of Human Genetics. 24, 2–5.
- Rehm, H.L. et al. 2013. ACMG clinical laboratory standards for next-generation sequencing. Genetics in medicine 15:9, 733–747.
- Mack, S.J. et al. 2015. Minimum information for reporting next generation sequence genotyping (MIRING): Guidelines for reporting HLA and KIR genotyping via next generation sequencing. Human Immunology. 76:12, 954–962.
- Ellard, S. et al. Practice guidelines for targeted next generation sequencing analysis and interpretation. Association for Clinical Genetic Science. Updated May 2014.