Comprehensive human genomic variant and methylation analysis with long nanopore reads

Overview

Capturing disease-associated genomic variants and epigenetic modifications across the entire genome is vital for effective clinical research. Long, native nanopore reads enable comprehensive, direct detection of single nucleotide variants (SNVs ), structural variants (SVs), short tandem repeat (STR) expansions, and methylation across the human genome — in a single sequencing run. This end-to-end workflow provides a scalable method to identify previously hidden and potentially pathogenic variants.

In this workflow, you will:

• Find out how direct nanopore sequencing enhances human variant calling
• Discover our best practice sequencing workflow in detail, starting from the recommended extraction method, through to primary analysis
• Learn about our recommended sequencing kit and devices