8000 2309 data release · exomiser Exomiser · Discussion #527 · GitHub

More Web Proxy on the site http://driver.im/

2309 data release #527

julesjacobsen announced in Data release

julesjacobsen
Oct 26, 2023
Maintainer

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

Replies: 0 comments

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment

0