Software and Database Versions¶
Software¶
| Task | Software | Version |
|---|---|---|
| Genome alignment | DRAGEN | 4.0.5 |
| Small variant detection | DRAGEN | 4.0.5 |
| Copy number detection | DRAGEN | 4.0.5 |
| Structural variant detection | DRAGEN | 4.0.5 |
| Short tandem repeat (STR) expansions | ExpansionHunter (as part of DRAGEN) | 5 |
| Variant annotation | CellBase | 5.4.25 |
Databases¶
| Source | Version |
|---|---|
| Ensembl | 107 |
| Genomics England Tiering | 5.131.2 |
| ClinVar | 2023-04 |
| gnomAD_genomes | 3.1.2 |
| gnomAD_exomes | 2.1.1 |
Note
The version of Ensembl indicated in the table above is used for the annotation of variants during the Genomics England Rare Disease variant tiering approach, and uses the version for the GRCh38 reference build. Information that is considered by Exomiser during variant prioritisation is available here.