Exomiser database versions¶
The Exomiser data release 2209 is used along with Exomiser v13.2.0. This dataset along with a description of its contents can be found here.
The versions datasets inside the bundle are:
| Group | Data | Version/Date |
|---|---|---|
| Transcripts | Ensembl (GRCh37) | 87 |
| Ensembl (GRCh38) | 99 | |
| Population frequencies | gnomAD exomes | r2.0.1 |
| gnomAD genomes | r2.0.1 | |
| ExAC | 0.3 | |
| ESP | ESP6500SI-V2-SSA137.GRCh38-liftover | |
| UK10K_COHORT | 20160215 | |
| dbSNP | 155 | |
| gnomAD-SV | v2.1 | |
| dbVar | 2022-08-03 | |
| DGV | 2020-02-25 | |
| GONL | 2016-10-13 | |
| DECIPHER | 2015 | |
| Pathogenicity sources | dbNSFP (Polyphen, MutationTaster, SIFT, MVP, REVEL) | 4.0b2a |
| ClinVar | 2022-08-24 | |
| Phenotype data | OMIM | 2022-08-26 |
| Orphanet | 2022-06-14 | |
| HPO | 2022-06-11 | |
| HPO annotations | 2022-06-11 | |
| IMPC | release 17 2022-08-01 | |
| MP | 2022-08-04 | |
| Zfin | 2022-08-27 | |
| ZP | 2022-08-27 |
Genomics England data sources¶
Internal data sources are also used when running Exomiser v13.2.0, these are described below
| Data | Version |
|---|---|
| Internal allele frequency data1 | GEL_aggCOVID_V4.2-2022011 |
| Inclusion list2 | 2209_hg38_clinvar_and_20220912_gel_includes_list |