sirselim / diagnostics_exome_reportingLinks
Pipeline to filter whole exome vcf files and generate a report document for clinical diagnostics.
☆14Updated 6 years ago
Alternatives and similar repositories for diagnostics_exome_reporting
Users that are interested in diagnostics_exome_reporting are comparing it to the libraries listed below
Sorting:
- ☆23Updated last month
- a Shiny/R application to view and annotate copy number variations☆28Updated 2 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆25Updated 7 years ago
- 📊Evaluating, filtering, comparing, and visualising VCF☆28Updated 2 years ago
- 🍶 Genome assembly with short sequence reads☆25Updated last year
- Parse samtools pileup file to get how many bases and what kind of bases are called☆14Updated last year
- Expectation-Maximization algorithm for Allele-Specific Expression☆21Updated 2 years ago
- DRAGEN Tumor/Normal workflow post-processing☆25Updated 2 years ago
- Processing and analysis of data coming from Illumina sequencing machines☆10Updated last week
- wg-blimp: an end-to-end analysis pipeline for whole genome bisulfite sequencing data☆28Updated 3 years ago
- An analysis of Arabidopsis RNA-seq data (hy5 mutant and wt, two replicates each; SRA accession SRX029582)☆16Updated 13 years ago
- Codes and Data for FFPEsig manuscript☆17Updated last year
- Personal diploid genome creation and coordinate conversion☆30Updated 8 months ago
- Framework to benchmark algorithms when detecting germline copy number variations (CNVs) from NGS data☆14Updated last year
- A command line tool to compute mapping statistics from a BAM file☆25Updated 3 years ago
- Prepare Sailfish and Salmon output for downstream analysis☆42Updated 6 years ago
- Filter and prioritize fusion calls☆20Updated last year
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago
- Combined mutation recurrence and functional impact to identify coding and non-coding cancer drivers☆15Updated 7 years ago
- SQUID detects both fusion-gene and non-fusion-gene structural variations from RNA-seq data☆42Updated 3 years ago
- Somatic point mutation caller☆17Updated 9 years ago
- Mapped QC analysis program☆44Updated 7 years ago
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- ☆15Updated 7 years ago
- The official repository for the deepSNV bioconductor packages. Branch master tracks the official Bioconductor development branch.☆17Updated 3 years ago
- a set of NGS pipelines☆24Updated last month
- Advanced plotting functions for CNV data generated by CNV-Seq and Control Freec☆13Updated 5 years ago
- Long read to rMATS☆32Updated 2 years ago
- Automated human exome/genome variants detection from FASTQ files☆23Updated 4 years ago
- MSKCC Reis-Filho Lab pipeline thingy☆18Updated 3 months ago