Optimizing an Ultrarapid DNA Sequencing Technique for Critical Care Patients

Опубликовано 22 марта 2022, 17:00

In January 2022, the New England Journal of Medicine published a record-breaking technique where a whole genome was sequenced in 7 hours and 18 minutes. This ultrarapid workflow offers hope for patients with undiagnosed or rare genetic diseases. The team, which included Stanford, Oxford Nanopore, NVIDIA, UCSC, and Google, accelerated every step, from sample processing to variant curation. AI was instrumental in basecalling, alignment, and variant calling. NVIDIA and Oxford Nanopore have further optimized the analysis pipeline on a single NVIDIA DGX A100, achieving state-of-the-art performance and reducing compute costs by over 50 percent.

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