Current status for GDx-bioinf systems and reference datasets
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 parental and single non-redundant samples, with the exclusion of test and control samples.
Additional criteria for CNV/SV databases: The analysis results are confined to deletions (DEL) and duplications (DUP and DUP:TANDEM), and the calls 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 |
Core production systems
The table below lists the latest release for important source code repositories. Follow links for previous releases.
| System | Repository | Version |
|---|---|---|
| Automation | TSD import and LIMS integration (tsd-import) |  |
| Automation | Maestro | [none] |
| Automation | Steps | [none] |
| Variant calling | Variant calling pipeline (vcpipe) |  |
| Variant calling | Noninvasive prenatal testing (NIPT) | [none] |
| Annotation | anno |  |
| Annotation | anno-targets |  |
| Annotation | Post-processing of structural variants (sv-pack) | [TODO: create release page] v1.3.0 |
| Interpretation | ELLA |  |
| Interpretation | Gene panel builder (GPB) |  |
| Interpretation | Gene panel store |  |