FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research.

ABSTRACT: The genomes of thousands of individuals are profiled within Dutch healthcare and research each year. However, this valuable genomic data, associated clinical data and consent are captured in different ways and stored across many systems and organizations. This makes it difficult to discover rare disease patients, reuse data for personalized medicine and establish research cohorts based on specific parameters. FAIR Genomes aims to enable NGS data reuse by developing metadata standards for the data descriptions needed to FAIRify genomic data while also addressing ELSI issues. We developed a semantic schema of essential data elements harmonized with international FAIR initiatives. The FAIR Genomes schema v1.1 contains 110 elements in 9 modules. It reuses common ontologies such as NCIT, DUO an

SUBMITTER: van der Velde KJ 

PROVIDER: S-EPMC9008059 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature