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Feb 8, 2019 - R
structural-variants
Here are 27 public repositories matching this topic...
My work during internship in Walter+Eliza Hall Institute of Medical Research
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Nov 3, 2018 - HTML
Testing structural variant (SV) callers for illumina germline whole genome sequence (WGS) data (human).
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Mar 2, 2023 - Shell
Garvan KCCG Student Summer Research Project #1 Benchmarking structural variant callers on whole genome sequencing data
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Feb 11, 2022 - R
In this repository I backup the pipelines I write for the project I am involved
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May 24, 2024 - Python
Structural Variants in cell-free tumor DNA
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May 21, 2018
2110581 Bioinformatics I project - Structural variant detection
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Nov 26, 2022 - Jupyter Notebook
Pipeline to analyze structural variants producing VCF files, then merge them and annotate if in Exon.
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Oct 9, 2020 - Nextflow
Genome assembly and variant benchmarks for Chinese Quartet
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Dec 10, 2023 - Python
Long read structural variants in rare disease cohort
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May 3, 2024 - Python
Code, analysis, and results for Hawley, Zhou, et al., Cancer Research, 2021.
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Mar 8, 2023 - HTML
Snakemake-based workflow for generating artificial genomes with structural variants
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Jan 18, 2023 - Python
Integrated analysis of Structural and Copy Number Variants on clinical targeted sequencing data
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Oct 27, 2022 - Perl
The experiments performed in State-of-the-art structural variant calling: What went conceptually wrong and how to fix it?
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Jul 18, 2023 - Python
A snakemake workflow for regions of difference discovery in Mycobacterium tuberculosis complex (MTBC) samples
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Feb 9, 2024 - Python
POSTRE: Prediction Of STRuctural variant Effects
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May 4, 2023 - R
PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
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Apr 19, 2024 - Python
Germline structural variant calling pipeline for short read WGS datasets
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Apr 8, 2024 - Nextflow
Small variant, structural variant, and short tandem repeat phasing tool for PacBio HiFi reads
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May 7, 2024 - Rust
A nextflow variant benchmarking pipeline - premature
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May 24, 2024 - Nextflow
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