2402 data release

[julesjacobsen]

New data update:

These data files are only compatible with the Exomiser 14.0.0 release. Attempting to run them with an earlier version of the software will result in an error and Exomiser not starting. The new data are 6-10 GB smaller than the 2302 data, depending on the assembly downloaded.

This release uses the gnomAD v4 release for hg38 and gnomAD v2.1.1 for hg19.

Direct links:

2402_hg19
2402_hg38
2402_phenotype

Exomiser 2402 database data sources

Genomic Data

Transcripts:

• ensembl 87 (GRCh37)
• ensembl 111 (GRCh38, MANE)

Frequency sources:

• gnomAD exomes r2.1.1 (GRCh37), r4 (GRCh38)

• gnomAD genomes r2.1.1 (GRCh37), r4 (GRCh38)

• ESP6500SI-V2-SSA137.GRCh38-liftover

• UK10K_COHORT.20160215

• dbSNP 156

• gnomAD-SV v2.1

• dbVar 2023-09-18

• DGV 2020-02-25

• GONL 2016-10-13

• DECIPHER 2015

Pathogenicity sources:

• dbNSFP 4.5a (Polyphen, MutationTaster, SIFT, MVP, REVEL, AlphaMissense)
• ClinVar 2024-02-06

Phenotype data

• OMIM 2024-02-08
• Orphanet 2023-12-04
• HPO 2024-02-08
• HPO annotations 2024-02-08
• IMPC release 20.0
• MP 2024-01-31
• Zfin downloaded 2024-02-08
• ZP downloaded 2024-02-08