Whole-Genome Sequencing Workflow for Clinical Research

This guide presents an end-to-end workflow for genome-wide analysis of genomic and epigenomic variants using the PromethION 24 device. It emphasizes the importance of high molecular-weight DNA extraction from clinical research samples to ensure optimal sequencing results. The document outlines recommended extraction methods, including the QIAGEN Puregene Blood Kit and size selection techniques, to preserve long DNA fragments. It details the library preparation process, suggesting the use of the Ligation Sequencing Kit for efficient and scalable workflows. The sequencing section describes how the PromethION 24 can generate high coverage of thousands of genomes annually, enabling real-time data analysis. The guide also highlights the analysis of single nucleotide variants, structural variants, and methylation through the EPI2ME human variation analysis workflow. Overall, this document serves as a comprehensive resource for researchers looking to implement high-throughput nanopore sequencing in clinical studies.