GenVisR

CNVkit -- Python toolkit for detecting copy number variants (CNVs) from targeted DNA sequencing data (hybrid capture, amplicon) and whole-genome sequencing (WGS). Leverages both on-target and off-targ

1 shared topic • 3 shared operations

ANNOVAR — efficient Perl-based tool for functional annotation of genetic variants from diverse genomes. Supports gene-based, region-based, and filter-based annotation using 100+ databases including Cl

2 shared topics • 1 shared operation

Exomiser -- Java application for phenotype-driven variant prioritization in rare disease diagnosis. Filters and ranks variants from VCF files using Human Phenotype Ontology (HPO) terms, cross-species

2 shared topics • 1 shared operation

Latch SDK — Python-native bioinformatics workflow platform for registering, executing, and sharing reproducible workflows on cloud infrastructure. Define workflows with @workflow and @task decorators,

2 shared topics • 1 shared operation

LINX — structural variant annotation and visualization tool from the Hartwig Medical Foundation hmftools suite. Interprets structural variants and copy number data to classify driver events including

1 shared topic • 2 shared operations