Genomics England - Long Read Sequencing

Contains tables related to long-reads sequencing data for 100,000 Genomes Project participants.

- lrs_laboratory_sample: Data describing the characteristics and processing methods (DNA to library preparation) of samples from participants in the 100,000 Genomes Project for which long-reads sequencing has been carried out.
- lrs_sequencing_data: This table includes data describing long-read sequencing of a subset of 100,000 Genomes Project participants and associated output, including paths to raw and BAM files.
- cancer_ont_cohorts: Table listing participant ids, sample data, file paths and sequencing statistics for Oxford Nanopore cancer cohorts available in the Research Environment, along with corresponding matched germline and Illumina short reads files where available
- rare_disease_pacbio_pilot: This is a dataset of 91 rare disease samples from the 100k genome project re-sequenced with Pacific Biosciences (PacBio) as an example dataset to to demonstrate the utility of their HiFi technology.
- Rare_disease_ont_cohorts: Genomics England have sequenced 315 rare disease participants with ONT and have generated structural variant calls.