Working Paper on Standards in the Genomic Surveillance Enterprise
We are excited to have partnered with the Rockefeller Foundation to produce a Working Paper on Genomic Surveillance Standards Development. Based on the findings from a series of workshops conducted over the summer, standards identified as deserving of priority for development are:
A set of widely available reference samples, maintained as targets move, to mimic real world samples for development, validation, and demonstration of wet laboratory procedures
Definitive bioinformatics characterization of such reference samples to serve as gold standard benchmarks for development of bioinformatics tools and demonstration of analytic accuracy
An open and public benchmarking platform in the form of a securely sharable, global workspace for pipelines, data, and benchmarking, inspired by precisionFDA
Minimum information standards and checklists for all steps in the process flow to demonstrate that each sample was processed according to each lab's own standard operating procedures
Metadata standards that ensure capture of standardized information about the entire flow of individual sample processing
Genomic database standards that ensure interoperability and unified access to databases with different use cases and user bases
Benchmark challenge competitions for software developers whose tools address integrative evolutionary and epidemiological analyses