Status for datasets and settings used in GDx-bioinf pipelines
Settings for delivery of CNV analyses
- All single WGS samples, except the following panels:
UtAv, Eksom - All
CuCasamples - Some trio WGS samples, when on panels:
UtAv, Metabolsk, Foster - Custom analyses with
'+CNV'tag (this will override other rules).
Internal (OUS in-house) frequency database information
The following information provides details on the most recent updates to our in-house variant frequency databases.
General sample inclusion criteria: This encompasses parent samples from trios and single samples, with each individual represented only once in the database. Test and control samples are excluded.
Additional criteria for CNV/SV databases: The analysis results are restricted to deletions (DEL) and duplications (DUP and DUP:TANDEM), and the calls are produced using Dragen.
| Database | Database content | Individuals, count | Last updated | Oldest project | Newest project |
|---|---|---|---|---|---|
| OUSWGS | SNV/indel allele frequency from wgs | 5871 | 2023-04-29 | first wgs | wgs249 |
| OUSWES | SNV/indel allele frequency from exomes | 7003 | 2022-02-02 | first exome | excap230 |
| OUS Manta DB | SV allele frequency from wgs, Manta caller | 4690 | 2023-02-27 | wgs140 | wgs252 |
| OUS Canvas DB | CNV allele frequency from wgs, Canvas caller | 7710 | 2023-02-27 | wgs28 | wgs252 |