non-redundant, compressed, journalled, file-based storage for biological sequences
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Updated
May 30, 2024 - Python
non-redundant, compressed, journalled, file-based storage for biological sequences
provides common tools and lookup tables used primarily by the hgvs and uta packages
a workflow for combining variant calls from SNV analyses done with different callers
A tool for automatic classification of sequence variants according to ACMG criteria.
genetic variant expressions, annotation, and filtering for great good.
Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`
Visualize microbial evolution at the SNP level!
A modular annotation tool for genomic variants
LOVD+ -- LOVD for diagnostics: analysis of whole-exome data using LOVD.
bcftools for dealing with bcf files.
Atom is a novel intermediate representation for applications and a standalone tool that is powered by chen.
[in development] Proof-of-Concept variation translation, validation, and registration service
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.
to analyze multiple VCF files and generate a summary of variant metrics
Organization-wide GitHub configuration
R package containing a R Shiny app for somatic genomic variants interpretation and a tool suite to deal with an underlying local structured database.
R package containing a R Shiny app for germline genomic variants interpretation, and a tool suite to deal with an underlying local structured database.
a C++ API of htslib to be easily integrated and safely used. More importantly, it can be callled seamlessly in R/Python/Julia etc.
EmbedPVP: Embedding-based Phenotype Variant Predictor
OpenAPI-based REST interface to biological sequences and sequence metadata
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