A structural variation pipeline for short-read sequencing
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Updated
Aug 19, 2024 - Python
A structural variation pipeline for short-read sequencing
Small variant, structural variant, and short tandem repeat phasing tool for PacBio HiFi reads
A nextflow variant benchmarking pipeline - premature
Structural variant discovery and genotyping from mapped PacBio HiFi data
A repository containing code for a manuscript intended for Molecular Ecology.
Long read structural variants in rare disease cohort
Call and score variants from WGS/WES of rare disease patients.
A snakemake pipeline to call structure variants from ONT data
Structural variant calling tutorial using long-reads.
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
Modular Multi-scale Integrated Genome Graph Browser
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
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.
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