A framework for generating synthetic genomics data for the evaluation of tumor-only somatic variant calling algorithms.
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Updated
Jul 11, 2024 - R
A framework for generating synthetic genomics data for the evaluation of tumor-only somatic variant calling algorithms.
A framework for generating synthetic genomics data for the evaluation of tumor-only somatic variant calling algorithms for the needs of my Doctoral Thesis.
implementing mutable structs and multiple dispatch over the junction annotations.
profiling variants for the pangenes alignments
Process raw haplotagging data, from raw sequences to phased haplotypes, batteries included.
A flexible, scalable, and reproducible pipeline to automate variant calling from sequence reads.
A nextflow variant benchmarking pipeline - premature
Python library to facilitate genome assembly, annotation, and comparative genomics
Snakemake workflow used to call germline and/or somatic variants with GATK Mutect2
Efficient variant-call data storage and retrieval library using the TileDB storage library.
command line and desktop tool for microbial variant calling
Pipeline to perform alignment & variant calling on whole-genome sequence data
nRex: Germline and somatic single-nucleotide, short indel and structural variant calling
Analysis pipeline to detect germline or somatic variants (pre-processing, variant calling and annotation) from WGS / targeted sequencing
Toolkit for calling structural variants using short or long reads
Convert variants from VarDict/VarDictJava into VCF v4.2 format.
A suite of bioinformatics data processing and analysis pipelines, software, and training resources for common DNA and RNA sequence analysis methods.
Delly workflow produces a set of vcf files with different types of structural variant calls
Long read production pipelines
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