Hexrays Toolbox - Find code patterns within the Hexrays ctree

Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`

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

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

Visualize microbial evolution at the SNP level!

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

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

A Snakemake-based pipeline for gene mapping in Triticeae.

Filter a VCF to discard false positive variants

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

A collection of software to work with genomic variants

Mapping complex genotypes to phenotypic subclusters

OpenAPI-based REST interface to biological sequences and sequence metadata

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.

An accurate small variant representation unification method for multiple sequencing platforms

A Prototype for Defining the Ancestral Alleles for Ones that Modify Human Phenotypes

EmbedPVP: Embedding-based Phenotype Variant Predictor

language-agnostic testing for inheritance models