Stars
Workflow Description Language - Specification and Implementations
This unofficial extension integrates Draw.io (also known as diagrams.net) into VS Code.
The Ensembl Variant Effect Predictor predicts the functional effects of genomic variants
DELLY2: Structural variant discovery by integrated paired-end and split-read analysis
Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`
Explore, compare, and evaluate Bioconductor packages related to genomic copy number analysis
a tool for CNV discovery and genotyping from depth-of-coverage by mapped reads
Scripts involved in our workflow for detecting CNVs from WGS data using read depth-based methods
Methods to integrate data from multiple genome sequencing datasets and form consensus variant calls
A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS
Generate duplex/single consensus reads to reduce sequencing noises and remove duplications
lumpy: a general probabilistic framework for structural variant discovery