Sequencing Genome in a Bottle samples

We are pleased to announce the release of a new addition to the Oxford Nanopore Open Data project: sequencing of several Genome in a Bottle samples (including the Ashkenazi Trio). Sequencing was performed with the 5 kHz upgrade to the Ligation Sequencing Kit V14 released in MinKNOW 23.04.05. As such the quality of data presented here should be representative of routine sequencing that can be performed by any lab using this latest release.

These reference samples were sequenced with two PromethION flow cells each to yield around more than 200 Gbases sequencing data per sample.

The following cell line samples were obtained from the NIGMS Human Genetic Cell Repository at the Coriell Institute for Medical Research: GM12878, GM24143, GM24149, GM24385

Data location

As with previous releases the new dataset is available for anonymous download from an Amazon Web Services S3 bucket. The bucket is part of the Open Data on AWS project enabling sharing and analysis of a wide range of data.

The data is located in the bucket at:

s3://ont-open-data/giab_2023.05/

See the tutorials page for information on downloading the dataset.

Sequencing Outputs

Two flowcells were used to sequence each of the samples to high depth:

Genome
Description
Cell line

HG001
CEPH/UTAH
GM12878

HG002
PGP Ashkenazi Son
GM24385

HG003
PGP Ashkenazi Father
GM24149

HG004
PGP Ashkenazi Mother
GM24143

For each flowcell used in the sequencing the PromethION device outputs are available. All data is present as .pod files, along with associated summary files in a structured fashion.

Further Information

https://labs.epi2me.io/giab-2023.05