1000 Genomes cohort sequenced with Oxford Nanopore Technologies
Here we present over 1000 samples in the 1000 Genomes cohort that have been sequenced using the long read Oxford Nanopore Technologies (ONT) sequencing platform. This enables investigation across 26 diverse genetic ancestries using long reads, at a scale not previously possible. Furthermore, ONT enables investigation not only of canonical bases, but also modifications including methylation (both 5mC and 5hmC). Reads were basecalled and trimmed using dorado v0.9.6, aligned to the reference genome hg38 using minimap2 v2.24 and then merged across flowcells into a single BAM file using samtools v1.17.
Here we present over 1000 samples in the 1000 Genomes cohort that have been sequenced using the long read Oxford Nanopore Technologies (ONT) sequencing platform. This enables investigation across 26 diverse genetic ancestries using long reads, at a scale not previously possible. Furthermore, ONT enables investigation not only of canonical bases, but also modifications including methylation (both 5mC and 5hmC). Reads were basecalled and trimmed using dorado v0.9.6, aligned to the reference genome hg38 using minimap2 v2.24 and then merged across flowcells into a single BAM file using samtools v1.17.