Overview

• NIST and the Genome in a Bottle Consortium have released the first cancer cell line genome explicitly consented to public sharing by a 61-year-old pancreatic cancer patient, alongside matched healthy tissue data.
• The multi-terabyte resource captures the full set of genetic instructions and cancer-causing mutations, sequenced across 13 state-of-the-art whole genome measurement technologies.
• Published in Scientific Data, the open-access genome allows laboratories to compare their sequencing outputs against reference data for equipment validation and improved confidence in clinical results.
• Researchers can leverage the detailed genome profiles to train artificial intelligence models for detecting somatic variants and uncovering potential therapeutic targets.
• NIST will next extend its Cancer Genome in a Bottle initiative to sequence and publish consented reference genomes for additional tumor types.