PromethION human genome NA19240

TLDR: we sequenced a human genome, NA19240, to 80x coverage using the Oxford Nanopore PromethION. The data is freely available on ENA.

We have been sequencing on Oxford Nanopore PromethION since February. Our main interest is in structural variation in the context of neurodegenerative diseases such as Alzheimer Disease and Frontotemporal Dementia, but for benchmarking and tool development we have sequenced the Yoruba reference genome NA19240 to 80x coverage (258Gigabases) using 5 flowcells, a Yoruban individual part of the HapMap and 1000 genomes project and well documented (Steinberg et al 2016,  Chaisson et al 2017, and many more).

The ENA project ID is PRJEB26791, the most recent basecalls (guppy 1.4.0) can be found here. We have also generated two runs on MinION for comparison, which are also available. Summary

Run DNA shearing BluePippin size selection Library prep kit Yield [Gbase] ENA accession

P1 unsheared

10kb LSK109 59 ERR2631600

P2 MegaRuptor 20kb

8kb LSK109 69 ERR2631601

P3 unsheared

10kb LSK109 29 ERR2631602

P4 unsheared

10kb LSK108 29 ERR2631603

P5 MegaRuptor 20kb

6kb LSK109 72 ERR2631604

M1 unsheared

10kb LSK109 4.8 ERR2683660

M2 unsheared

10kb LSK109 7.9 ERR2683661

Plots The plots below were generated using NanoComp and NanoPlot.

\