Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`
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Updated
May 24, 2024 - Python
Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`
provides common tools and lookup tables used primarily by the hgvs and uta packages
A tool for automatic classification of sequence variants according to ACMG criteria.
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
non-redundant, compressed, journalled, file-based storage for biological sequences
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
using all the bits for echt rapid variant annotation and filtering
Identification and classification of homopolymeric tracts from reads.
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