Target ALS is on a mission to end Amyotrophic Lateral Sclerosis (ALS) through a landmark Innovation Ecosystem model, fostering unprecedented scientific collaboration between academia and the pharmaceutical/biotech industry. Through a recent partnership with PacBio, Target ALS is leveraging HiFi sequencing to help researchers identify complex structural variants, detect repeat expansions and other genetic features that standard tests fail to pick up. Over the next few years, Target ALS will sequence more than 6,000 ALS genomes from multiple clinical programs including the Postmortem Tissue Core, the Global Natural History Study, and the In-Community "Pop Up" Outreach Study. Note that some of these same files exist with associated clinical metadata in other collections. With this long-read sequencing, researchers can detect repeat expansions like C9orf72, capture structural variants that influence gene expression, and explore epigenetic changes alongside genetic changes in one assay. Organisation: Target ALS Webpage: https://www.targetals.org/ Date Engine: https://www.targetals.org/resource/genomic-datasets/ Additional Data Network: https://hifisolves.org/collections HiFi Solves...
Access requires approval by the data custodian. The collection's description and structure are public; querying the data requires an approved request.
Target ALS HiFi LR Sequencing Collection is published on Target ALS Data Engine.