The Sequencing Initiative Suomi (SISu) project is an international collaboration to harmonize and aggregate whole genome and exome sequence data from Finnish samples, providing data for researchers and clinicians. The SISu project allows for the search of variants to determine their attributes and occurrence in Finnish cohorts, and provides summary data on single nucleotide variants and indels from exomes, sequenced in disease-specific and population genetic studies.

Prefix

sisu

Keywords

biomedical science epidemiology genomics medicine preclinical studies

Links

Homepage

Contact

Hannele Laivuori   0000-0003-3212-7826

Pattern for Local Unique Identifiers

Local identifiers in Sequencing Initiative Suomi should match this regular expression:
^[0-9]+:[0-9]+$

Example Local Unique Identifier

17:41223048   Resolve

Pattern for CURIES

Compact URIs (CURIEs) constructed from Sequencing Initiative Suomi should match this regular expression:
^sisu:[0-9]+:[0-9]+$

Example CURIE

sisu:17:41223048

Publications

• 2015 Targeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty
• 2014 Distribution and medical impact of loss-of-function variants in the Finnish founder population

The metaregistry provides mappings between the Bioregistry and other registries. There are 4 mappings to external registries for this resource with 2 unique external prefixes.

A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).

The local unique identifier 17:41223048 is used to demonstrate the providers available for Sequencing Initiative Suomi. A guide for curating additional providers can be found here.