Hexrays Toolbox - Find code patterns within the Hexrays ctree

Python library to parse, format, validate, normalize, and map sequence variants according to HGVS Nomenclature (https://hgvs-nomenclature.org/).

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.

non-redundant, compressed, journalled, file-based storage for biological sequences

Automatic classification of sequence variants and CNVs according to ACMG criteria.

provides common tools and lookup tables used primarily by the hgvs and uta packages

[in development] Proof-of-Concept variation translation, validation, and registration service

Visualize microbial evolution at the SNP level!

Python Client Library for the G2P Portal API

A Snakemake-based pipeline for gene mapping in Triticeae.

A terminal-first approach to CodeQL multi-repo variant analysis

Filter a VCF to discard false positive variants

A collection of software to work with genomic variants

Deterministic and standard extractor of SNVs, indels and structural variants (SVs) from VCF files.

OpenAPI-based REST interface to biological sequences and sequence metadata

Mapping complex genotypes to phenotypic subclusters

EmbedPVP: Embedding-based Phenotype Variant Predictor

A research-oriented, transparent, and extensible variant interpretation pipeline implementing ACMG/AMP 2015 & 2023 guidelines.

A python command line based script for extraction of annotated variants from VCF file, generating variant proteome database and to check the uniqueness of variant proteins from the database search.

A relational database stores per sample based sequencing data.