Structural Variants in cell-free tumor DNA
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Updated
May 21, 2018
Structural Variants in cell-free tumor DNA
My work during internship in Walter+Eliza Hall Institute of Medical Research
Pipeline to analyze structural variants producing VCF files, then merge them and annotate if in Exon.
Garvan KCCG Student Summer Research Project #1 Benchmarking structural variant callers on whole genome sequencing data
MindTheGap is a SV caller for short read sequencing data dedicated to insertion variants (all sizes and types). It can also be used as a local assembly tool.
🔍 Post Assembly Variants Finder
Integrated analysis of Structural and Copy Number Variants on clinical targeted sequencing data
2110581 Bioinformatics I project - Structural variant detection
Snakemake-based workflow for generating artificial genomes with structural variants
Testing structural variant (SV) callers for illumina germline whole genome sequence (WGS) data (human).
Code, analysis, and results for Hawley, Zhou, et al., Cancer Research, 2021.
The experiments performed in State-of-the-art structural variant calling: What went conceptually wrong and how to fix it?
A snakemake workflow for regions of difference discovery in Mycobacterium tuberculosis complex (MTBC) samples
Snakemake-based workflow for detecting structural variants in genomic data
Germline structural variant calling pipeline for short read WGS datasets
PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
Modular Multi-scale Integrated Genome Graph Browser
Genome assembly and variant benchmarks for Chinese Quartet
Clinical Whole Genome and Exome Sequencing Pipeline
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