Genome editing technologies are able to produce DNA sequence changes of a variety of sizes and at a variety of frequencies in a population of edited cells. Having increased confidence in reliably detecting the sequences generated by a genome editing process was a need area identified.
The GIAB (Genome in a Bottle) Mixture Study is a blinded interlab study designed to leverage highly characterized GIAB cell lines to test assay capabilities to accurately report variant size and frequency with documented processes, baseline data, and benchmark data by providing interlab participants DNA and cell mixtures representing a variety of DNA sequence benchmarks.
Interlab participants were provided a list of ‘Positions of Interest’, but were blinded to the genomes used, the variant(s), and the variant frequencies. Interlab participants performed DNA detection using processes and workflows relevant to their normal operations for detecting variants post genome editing.
Technologies assessed within the interlab include:
Reporting includes information surrounding:
Engineering and genomic characterization of clonal cell lines representing an allelic series of variants is in-progress.