gnomad
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🧬 gnomAD Python API is used to obtain data from gnomAD (genome aggregation database).
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Dec 9, 2021 - Python
Characterization of Germline variants
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Mar 15, 2022 - Python
Some BASH Projects
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Jun 23, 2022 - Shell
An R package for interpreting genetic variants according to the ACMG guidelines.
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Jul 22, 2023 - R
The ProteoGenomics database generation workflow creates different protein databases for ProteoGenomics data analysis.
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May 9, 2024 - Nextflow
Identification of cancer-causing variants
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Apr 19, 2024 - Python
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.
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Apr 27, 2024 - Python
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
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May 17, 2024 - Python
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.
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Jun 12, 2024 - Python
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