Below you'll find answers to the questions we get asked the most about SISu project and its data. If you have something to ask and cannot find the answer from this website, feel free to send us your questions. You can either fill in the feedback form on the contact page or approach the SISu project coordinator directly.
There may be many reasons for this. The variant may not lie in exonic regions, none of the capture kits cover this particular variant, there were no carriers of alternative alleles, or this particular variant was removed due to bad quality before variant calling. Because of this, we are unfortunately not able to pinpoint the exact reason for a missing variant. However, variants that had quality issues after variant calling are left in the data, but they have only the pre-qc allele frequency.
Of course it is also possible that variants are not found because the syntax has been wrong. Therefore, we suggest you to check the search instructions, just in case. Please also note that the positions are in GRCh37, not GRCh38.
Approximately half of the samples in SISu come from population controls, half from disease-specific cohorts that include both cases and controls. Therefore, if you are looking for control data, you can reduce possible bias by limiting the search to the FINRISK population study only with search filters that are going to be implemented later. More information about the cohorts included in SISu can be found on the cohorts page.
The SISu web search and database includes only aggregate summary data over all cohorts. However, we do not have and cannot provide any individual or cohort level data. If you want to apply for cohort data, you can do it via cohort specific application services. Access to sequence and phenotype data is managed by The National Institute for Health and Welfare's (THL) biobank or custodians of the individual cohorts according to their data access protocols and regulations. You can read more about the THL Biobank collections here and check the THL Biobank electronic application system. More information about the cohorts included in SISu and their custodians can be found also on the cohorts page.