Table 1.

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

Subcategory of gap	Description
Uniform work process	Gaps related to parts of the entire process that are not yet uniform.
Financial	One gap, also linked to HTA, about lack of standardised transaction codes.
ELSI	Specific ELSI gaps with a findability/reproducibility component that could be taken up by the working group on data management and/or data processing.
Data standards	Gaps that address a variety of issues related to standards.
Data sharing	Gaps that, if resolved, would strongly ease sharing of data.
Data quality	Gaps influencing the quality of the (sub)processes of genome sequencing.
Data management	Gaps that are part of higher level, overarching data management aspects.
Data linking	Gaps identifying issues in combining data from various sources.
Data archiving	Gaps mainly pointing to sustainable data storage and use.
Data analysis	Gaps related to analysis/interpretation of genome sequence data.
Operational	Gaps 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.