A collection of web tools for biologists

Hail variant annotation toolkit

a core part of the MiModD package for use as a library

Skeleton for NGS pipeline, now backbone of OVAS project

a workflow for combining variant calls from SNV analyses done with different callers

to analyze multiple VCF files and generate a summary of variant metrics

A Latch Bio workflow to call DNA sequence variants

biocommons website

An accurate small variant representation unification method for multiple sequencing platforms

language-agnostic testing for inheritance models

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

EmbedPVP: Embedding-based Phenotype Variant Predictor

A relational database stores per sample based sequencing data.

OpenAPI-based REST interface to biological sequences and sequence metadata

A collection of software to work with genomic variants

Mapping complex genotypes to phenotypic subclusters

Filter a VCF to discard false positive variants

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

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