Long read structural variants in rare disease cohort
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Updated
Jul 25, 2024 - Python
Long read structural variants in rare disease cohort
A snakemake pipeline to call structure variants from ONT data
A structural variation pipeline for short-read sequencing
In this repository I backup the pipelines I write for the project I am involved
Clinical Whole Genome and Exome Sequencing Pipeline
Genome assembly and variant benchmarks for Chinese Quartet
PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
Snakemake-based workflow for detecting structural variants in genomic data
A snakemake workflow for regions of difference discovery in Mycobacterium tuberculosis complex (MTBC) samples
The experiments performed in State-of-the-art structural variant calling: What went conceptually wrong and how to fix it?
Snakemake-based workflow for generating artificial genomes with structural variants
🔍 Post Assembly Variants Finder
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