Convolutional network for detection of CNV

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

Structural variant and indel caller for mapped sequencing data

DELLY2: Structural variant discovery by integrated paired-end and split-read analysis

A tool to genotype CYP2D6 with WGS data

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

Integrated copy number variation detection toolset

GPU-based cn.MOPS

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

A deep learning-based tool to identify splice variants

Generate duplex/single consensus reads to reduce sequencing noises and remove duplications

lumpy: a general probabilistic framework for structural variant discovery