geocarvalho / sv-cnv-studiesLinks
Relevant papers for CNV and SV approaches
☆94Updated 11 months ago
Alternatives and similar repositories for sv-cnv-studies
Users that are interested in sv-cnv-studies are comparing it to the libraries listed below
Sorting:
- phasing and Allele Specific Expression from RNA-seq☆116Updated last year
- This WDL pipeline implements data pre-processing and initial variant calling according to the GATK Best Practices for germline SNP and In…☆55Updated 4 years ago
- Analysis of subclonal copy number alterations (CNA) and loss of heterozygosity (LOH) in cancer☆97Updated 4 years ago
- Script to automatically create and run IGV snapshot batchscripts☆143Updated 2 years ago
- Tip and tricks for BAM files☆86Updated 7 years ago
- 10x Genomics Linked-Read Diploid De Novo Assembler☆65Updated 6 years ago
- WisecondorX — An evolved WISECONDOR☆103Updated last month
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆72Updated last year
- FEELnc : FlExible Extraction of LncRNA☆90Updated 2 months ago
- Software program for checking sample matching for NGS data☆137Updated last year
- Finder of Somatic Fusion Genes in RNA-seq data☆147Updated 3 weeks ago
- Integrate DNA-seq and RNA-seq data to identify mutations that are associated with regulatory effects on gene expression.☆130Updated last year
- Exome/Capture/RNASeq Pipeline Implementation using snakemake☆47Updated 7 years ago
- BAM Statistics, Feature Counting and Annotation☆150Updated last week
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆98Updated 3 years ago
- Copy number calling and variant classification using targeted short read sequencing☆140Updated last month
- An R package to Identify, Annoatate and Visialize Isoform Switches with Functional Consequences (from RNA-seq data)☆117Updated 8 months ago
- Genomic Interactive Visualization Engine☆145Updated 2 years ago
- Learning the Variant Call Format☆144Updated 2 months ago
- Characterization of Germline variants☆98Updated 3 years ago
- Microsatellite instability (MSI) detection for tumor only data.☆110Updated last year
- ☆72Updated 2 years ago
- Nextflow RNA-Seq Best Practice analysis pipeline, used at the SciLifeLab National Genomics Infrastructure.☆51Updated 7 years ago
- This repo has been archived, these workflows are still available in the GATK repository under the scripts directory. The workflows are al…☆77Updated 5 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆67Updated 2 years ago
- Documenting usage and experience with bioinformatic tools☆40Updated 10 years ago
- Snakemake-based workflow for detecting structural variants in genomic data☆80Updated 7 months ago
- Burden testing against public controls☆50Updated last year
- fast and accurate alignment of BS-Seq reads using bwa-mem and a 3-letter genome☆150Updated 2 months ago
- R package designed to simplify structural variant analysis☆73Updated 3 years ago