There are currently 596 DNA samples that have been sequenced for the IBVL.

Some of the samples used to build the IBVL came from individuals who are a first degree relative of another IBVL participant. Genetic variants segregate within families, so closely related individuals are more likely to carry the same variants through descent. Including multiple close relatives can therefore overrepresent familial variants and bias frequency results. In order to distinguish broadly relevant variants from those driven by family inheritance, we have removed first degree relatives from the IBVL. Therefore, the final sample number is less than 596. With IBVL version 1.2, the exclusion of first degree relatives has been done for GRCh38 but not GRCh37.

It is hoped that the IBVL will grow over time to more fully reflect the diversity of Indigenous Peoples across Canada as more individuals and communities choose to participate. Such expansion can only occur with thoughtful consideration and approval of all parties, including approval by the SG-IBVL Governance Committee.

The IBVL consists of genetic data that has been merged from all samples. In this way, no individual data (i.e the DNA variants of one individual) will be available. This is to ensure that individual participant data cannot be recognized or accessed in any way.

Some regions of Canada are better represented than others. Because of this, it is important to be aware that a variant that is absent from the IBVL may actually be common, but only in communities/populations/regions that are not currently well represented in the IBVL.

The IBVL may be available as a data repository for research projects involving Indigenous participants that are seeking a resource with Indigenous governance on a case-by-case basis. Further discussions with the Silent Genomes Project team and SG-IBVL Governance Committee would be necessary for consideration. For those interested in exploring this option, please contact our team.

The Terms of Use are listed in the IBVL Resource Document (page 4-5). All users are required to read and confirm understanding of the Terms. Variant frequency data is only to be used for the intended purpose of the IBVL, which is clinical diagnosis, unless approval has been given otherwise. No approved user may access more than a small amount of data (100 variant positions) in a 24-hour time period to provide protection to the information in the IBVL.

Yes, it may be possible to access the data in the IBVL for health research that benefits Indigenous Peoples and that is approved by the SG-IBVL Governance Committee. There is no open access for researchers to use the IBVL. Researchers who wish to utilize variant frequency data in the IBVL can submit a ‘Clinical Research Review Request’ (found here: https://www.bcchr.ca/silent-genomes-project/ibvl/ibvl_database), which will be reviewed by the SG-IBVL Governance Committee.

To protect the identity of the communities and participants of the samples used for the IBVL, the names of the communities that are included will not be identified. The only data provided online is frequency data for individual variants, and this is based on the entire sample. If, for clinical reasons, regional frequency is deemed important, please contact the Silent Genomes Project team. In some cases, with appropriate approvals, more specific information may be provided.

No, downloading the full data set of variants from the IBVL is not allowed. If you need access beyond the limit of 100 variant positions per day, please contact us to explore options.

To search for a variant, enter the variant (via chromosome location or dbSNP ID) into the search bar. Ensure you have selected the correct reference genome build (GRCh37 or GRCh38). If the variant is found, it will appear in the drop down below. If the variant is absent, no search results will appear. You can click on ‘How do I search?’ for an example of how to format your search term. You can find a tutorial video on the ‘About’ page.

GRCh37 and GRCh38 refer to two human reference genome assemblies that are used around the world. A reference assembly specifies the specific positions of the more than three billion letters in the human genome. The same letter may have a slightly different location in each reference assembly. As the GRCh38 version of the IBVL includes filtering of first-degree relatives, we recommend using this assembly at this time. The chromosomal locations of a variant differ between each assembly and therefore it is important to ensure you search in the same assembly where your variant came from. If you are searching a variant from a genetic testing report the assembly version should be specified on the report.

You can search for a variant using the chromosomal location, rsID number (from the SNP database or dbSNP), or a ClinVar ID (Variation ID in ClinVar). It does not matter which one you use as long as you ensure that you have selected the right chromosome assembly (GRCh37 or GRCh38).

It is only possible to search for one variant at a time; however, after searching for your variant you can search for another from the result or home pages.

Currently the IBVL can detect single nucleotide variants (SNVs), mitochondrial variants, and small insertions or deletions (indels) of less than 50 base pairs.

After the chromosome location, enter the reference bases followed by a separator and the alternate bases. For example, a 5 base insertion would look like: 1_1234567_A_ATATAT

Samples were sequenced using paired-end sequencing on the Illumina NovaSeq platform.

Data was generated at a minimum of 30X coverage.

The initial version of the annotation process is described in this manuscript: https://www.biorxiv.org/content/10.1101/2022.10.03.508010v2

If a flag appears under the gnomAD column (example above), a quality control filter has been triggered for this variant in gnomAD. To find out more, you can go to the gnomAD page and determine what quality control filter has been triggered.

As you type into the search bar, you will see nearby variants appear in the results pane. The window size is plus or minus 499 base pairs.

You can cite the IBVL using our website page. Example below:

Silent Genomes Project. Indigenous Background Variant Library. V1.2, University of British Columbia, January 2025, https://www.bcchr.ca/silent-genomes-project/ibvl. Date of access.

Please read the next two questions to explore if they apply to your publication.

For manuscripts presenting IBVL data, please submit a ‘Publication Review Request’ (see About page for details) to be reviewed by the SG-IBVL Governance Committee.

Any health research beyond rare disease diagnosis that uses IBVL must be reviewed and approved by the SG-IBVL Governance Committee prior to initiating research. For manuscripts presenting SG-IBVL Governance Committee approved research, please submit a ‘Publication Review Request’ (see About page for details) to be reviewed by the SG-IBVL Governance Committee.

Yes, to provide feedback please click the button on the top right corner of this website ➚.

For further information, you can reach out to the IBVL team at sgadmin@bcchr.ca.