My work during internship in Walter+Eliza Hall Institute of Medical Research
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Updated
Nov 3, 2018 - HTML
My work during internship in Walter+Eliza Hall Institute of Medical Research
Garvan KCCG Student Summer Research Project #1 Benchmarking structural variant callers on whole genome sequencing data
Structural Variants in cell-free tumor DNA
Integrated analysis of Structural and Copy Number Variants on clinical targeted sequencing data
Pipeline to analyze structural variants producing VCF files, then merge them and annotate if in Exon.
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).
In this repository I backup the pipelines I write for the project I am involved
The experiments performed in State-of-the-art structural variant calling: What went conceptually wrong and how to fix it?
2110581 Bioinformatics I project - Structural variant detection
Genome assembly and variant benchmarks for Chinese Quartet
Long read structural variants in rare disease cohort
A nextflow variant benchmarking pipeline - premature
Germline structural variant calling pipeline for short read WGS datasets
A snakemake workflow for regions of difference discovery in Mycobacterium tuberculosis complex (MTBC) samples
Snakemake-based workflow for generating artificial genomes with structural variants
PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
Clinical Whole Genome and Exome Sequencing Pipeline
🔍 Post Assembly Variants Finder
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