kevinblighe / ClinicalGradeDNAseqLinks
Automated next generation DNA sequencing analysis pipeline suited for clinical tests, with >99.9% sensitivity to Sanger sequencing at read-depth>18
☆26Updated 5 years ago
Alternatives and similar repositories for ClinicalGradeDNAseq
Users that are interested in ClinicalGradeDNAseq are comparing it to the libraries listed below
Sorting:
- Mapped QC analysis program☆44Updated 7 years ago
- Splice junction analysis and filtering from BAM files☆42Updated 3 years ago
- Adapters for trimming☆30Updated 6 years ago
- Evolutionary Transcriptomics with R☆45Updated this week
- Seeking information like heteroplasmy, structure variants, etc. on Mitochondrial genome from next generation sequencing☆41Updated 6 years ago
- Genomes on the Cloud, Mapping & Variant Calling Pipelines☆35Updated 8 years ago
- ☆51Updated 6 years ago
- ☆35Updated 4 years ago
- List of IARC bioinformatics pipelines and resources☆53Updated 2 months ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆58Updated 3 years ago
- Pipeline for structural variation detection in cohorts☆51Updated 4 years ago
- RetroSeq is a bioinformatics tool that searches for mobile element insertions from aligned reads in a BAM file and a library of reference…☆67Updated 2 years ago
- R package for inferring copy number from read depth☆32Updated 3 years ago
- A software for calculating telomere length☆71Updated 6 years ago
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated 2 years ago
- Integrative analysis of structural variations.☆40Updated last year
- A command line tool to compute mapping statistics from a BAM file☆24Updated 3 years ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- Welcome to the website and github repository for the Genome Analysis Module. This website will guide the learning experience for trainees…☆26Updated 2 years ago
- A python parser to simplify and build the VCF (Variant Call Format).☆49Updated 11 months ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆25Updated 7 years ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 7 months ago
- Pipeline for structural variant image curation and analysis.☆48Updated 3 years ago
- Generic human DNA variant annotation pipeline☆58Updated last year
- (WIP) best-practices workflow for rare disease☆62Updated last year
- Structural Variant Prediction Viewer☆35Updated 8 years ago
- Structural variant merging tool☆55Updated last year
- Reproducibility workflow for Gigante et al., 2018: Using long-read sequencing to detect imprinted DNA methylation☆23Updated 6 years ago
- ☆78Updated 11 years ago
- This is a pipeline for variant annotation in the diagnosis of rare genetic disorders. It relies on open source data and has instructions …☆17Updated 2 years ago