Workflow: human variant calling

Comprehensive human genomic variant and methylation analysis with long nanopore reads

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, structural variants, short tandem repeat expansions, and methylation across the human genome — in a single sequencing run.

From streamlined library prep to high-output sequencing on PromethION™ and simple data analysis, this scalable, end-to-end workflow ensures that previously hidden, potentially pathogenic variants are identified, accelerating your clinical research. Further downstream data interpretation can be facilitated through the use of integrated tertiary analysis tools from industry-leading providers.