A structural variation pipeline for short-read sequencing
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Updated
May 30, 2024 - Python
A structural variation pipeline for short-read sequencing
Call and score variants from WGS/WES of rare disease patients.
A nextflow variant benchmarking pipeline - premature
In this repository I backup the pipelines I write for the project I am involved
Clinical Whole Genome and Exome Sequencing Pipeline
Small variant, structural variant, and short tandem repeat phasing tool for PacBio HiFi reads
Modular Multi-scale Integrated Genome Graph Browser
Long read structural variants in rare disease cohort
PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
Germline structural variant calling pipeline for short read WGS datasets
Snakemake-based workflow for detecting structural variants in genomic data
A snakemake workflow for regions of difference discovery in Mycobacterium tuberculosis complex (MTBC) samples
Genome assembly and variant benchmarks for Chinese Quartet
The experiments performed in State-of-the-art structural variant calling: What went conceptually wrong and how to fix it?
POSTRE: Prediction Of STRuctural variant Effects
Code, analysis, and results for Hawley, Zhou, et al., Cancer Research, 2021.
Testing structural variant (SV) callers for illumina germline whole genome sequence (WGS) data (human).
Snakemake-based workflow for generating artificial genomes with structural variants
2110581 Bioinformatics I project - Structural variant detection
Integrated analysis of Structural and Copy Number Variants on clinical targeted sequencing data
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