Table 1

Sub categories of gaps identified in this analysis of the NGS process

Subcategory of gapDescription
Uniform work processGaps related to parts of the entire process that are not yet uniform.
FinancialOne gap, also linked to HTA, about lack of standardised transaction codes.
ELSISpecific ELSI gaps with a findability/reproducibility component that could be taken up by the working group on data management and/or data processing.
Data standardsGaps that address a variety of issues related to standards.
Data sharingGaps that, if resolved, would strongly ease sharing of data.
Data qualityGaps influencing the quality of the (sub)processes of genome sequencing.
Data managementGaps that are part of higher level, overarching data management aspects.
Data linkingGaps identifying issues in combining data from various sources.
Data archivingGaps mainly pointing to sustainable data storage and use.
Data analysisGaps related to analysis/interpretation of genome sequence data.
OperationalGaps pointing to issues in the (daily) operation of genome sequencing.
  • ELSI, Ethical, Legal and Social Implications service desk; HTA, Health Technology Assessment; NGS, next generation sequencing.