Hereditary Cancer Panel

The Oxford Nanopore Technologies’ Hereditary Cancer Panel is a robust and comprehensive sequencing assay that targets 258 genes associated with hereditary cancer risk. It uses adaptive sampling, a rapid and flexible on-instrument target enrichment method that eliminates the need for baits, primers, or lengthy library preparation.

This data release includes nine Genome in a Bottle NA24385 (HG002) sequencing datasets, in a 3-plex format across three PromethION Flow Cells. The panel leverages Oxford Nanopore’s flexible read‑length capability to generate kilobase‑scale reads appropriate for this assay. This capability enables accurate detection of complex structural variants, single nucleotide variants, and insertions or deletions. It also supports haplotype phasing and can resolve challenging regions.

In addition to variant detection, the use of direct DNA sequencing allows for methylation analysis, providing an integrated genomic and epigenomic view of each sample. This enables researchers to explore features such as gene promoter silencing and parent-of-origin effects.

The following cell line sample was obtained from the NIGMS Human Genetic Cell Repository at the Coriell Institute for Medical Research: GM24385

Sample

Preparation

Sample preparation was performed according to protocols contained within the Hereditary Cancer Panel Bundle.

Further preparation information such as sample storage suggestions can be found on the Oxford Nanopore Website.

Sequencing

Sequence data was generated using the following configuration:

Data Download

The dataset is available for anonymous download, without login, from a public 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 can be downloaded with the AWS CLI command:

aws s3 sync --no-sign-request s3://ont-open-data/hereditary_cancer_2025.09 hereditary_cancer_2025.09

See the tutorials page for information on downloading the dataset. You can also browse and download the files in your web browser courtesy of 42basepairs.

Analysis

Data was analysed using the wf-hereditary-cancer(v1.2.1) workflow, an EPI2ME pipeline available as part of the Hereditary Cancer Panel Bundle.

The analysis results are located in the S3 bucket under the prefix:

s3://ont-open-data/hereditary_cancer_2025.09/analysis

Related Materials

• Further information about the Hereditary Cancer Panel
• Store purchase
• Hereditary Cancer Panel Protocol