GitHub topics: gnomad
KalinNonchev/gnomAD_DB
This package scales the huge gnomAD files to a SQLite database, which is easy and fast to query. It extracts from a gnomAD vcf the minor allele frequency for each variant.
Language: Python - Size: 17.7 MB - Last synced at: 3 days ago - Pushed at: 12 months ago - Stars: 44 - Forks: 10
broadinstitute/gnomad-browser
Explore gnomAD datasets on the web
Language: TypeScript - Size: 42.3 MB - Last synced at: 8 days ago - Pushed at: 9 days ago - Stars: 84 - Forks: 49
pstawinski/pygenebe
PyGeneBe: A Python client seamlessly integrating with the GeneBe platform, offering efficient annotation of genetic variants through its API, while supporting pandas, VCF file formats, and HGVS parsing
Language: Python - Size: 2.94 MB - Last synced at: about 1 month ago - Pushed at: about 1 month ago - Stars: 6 - Forks: 0
nf-core/pgdb Fork of bigbio/pgdb
The ProteoGenomics database generation workflow creates different protein databases for ProteoGenomics data analysis.
Language: Nextflow - Size: 3.07 MB - Last synced at: 3 months ago - Pushed at: 3 months ago - Stars: 5 - Forks: 8
ding-lab/CharGer
Characterization of Germline variants
Language: Python - Size: 16.8 MB - Last synced at: 13 days ago - Pushed at: about 3 years ago - Stars: 98 - Forks: 37
sfbizzari/gnomADv4-Batch-tool-pythonAPI Fork of broadinstitute/gnomad-browser
Using gnomad-browser's GraphQL updated API to retrieve total joint allele frequencies, exome/genome allele frequencies and homozygote counts as well as population specific numbers for a batch of variants.
Language: Python - Size: 38.1 MB - Last synced at: 11 months ago - Pushed at: 11 months ago - Stars: 1 - Forks: 0
mt190502/bash-bin
Some BASH Projects
Language: Shell - Size: 4.56 MB - Last synced at: 2 days ago - Pushed at: almost 3 years ago - Stars: 6 - Forks: 0
Hansi-Thewarapperuma/Inherited_Risk_Detector
Identification of cancer-causing variants
Language: Python - Size: 7.74 MB - Last synced at: 12 months ago - Pushed at: about 1 year ago - Stars: 1 - Forks: 0
daynefiler/gnomadR
R package to access gnomAD API (under development)
Language: R - Size: 738 KB - Last synced at: about 2 months ago - Pushed at: about 3 years ago - Stars: 3 - Forks: 4
furkanmtorun/gnomad_python_api
🧬 gnomAD Python API is used to obtain data from gnomAD (genome aggregation database).
Language: Python - Size: 280 KB - Last synced at: over 1 year ago - Pushed at: over 3 years ago - Stars: 17 - Forks: 9
ronaldosfjunior/VarSleuth
An R package for interpreting genetic variants according to the ACMG guidelines.
Language: R - Size: 16.6 KB - Last synced at: almost 2 years ago - Pushed at: almost 2 years ago - Stars: 0 - Forks: 0
kopalgarg/gnomAD_gene_model
shiny web-app
Language: R - Size: 233 KB - Last synced at: about 2 years ago - Pushed at: almost 4 years ago - Stars: 0 - Forks: 0
