2309 data release

[julesjacobsen]

New data update:

Direct links:

2309_hg19
2309_hg38
2309_phenotype

Exomiser 2309 database data sources

Genomic Data

Transcripts:

• ensembl 87 (GRCh37)
• ensembl 109 (GRCh38, MANE)

Frequency sources:

• gnomAD exomes r2.0.1

• gnomAD genomes r2.0.1

• ExAC 0.3

• 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 4.0b2a (Polyphen, MutationTaster, SIFT, MVP, REVEL)
• ClinVar 2023-09-17

Phenotype data

• OMIM 2023-08-31
• Orphanet 2023-06-27
• HPO 2023-09-01
• HPO annotations 2023-09-01
• IMPC release 19.1
• MP 2023-09-11
• Zfin downloaded 2023-09-18
• ZP downloaded 2023-09-18