8000 2302 data released · exomiser Exomiser · Discussion #487 · GitHub

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2302 data released #487

julesjacobsen announced in Data release

julesjacobsen
Mar 21, 2023
Maintainer

New data update:

Direct links:

2302_hg19
2302_hg38
2302_phenotype

Exomiser 2302 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 2023-02-08

Phenotype data

OMIM 2023-01-31
Orphanet 2022-11-28
HPO 2023-01-27
HPO annotations 2023-01-27
IMPC release 18 2022-11-28
MP 2023-02-02
Zfin downloaded 2023-02-11
ZP downloaded 2023-02-11

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