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
- RUFUS k-mer based genomic variant detection☆54Updated 6 months ago
- A python parser to simplify and build the VCF (Variant Call Format).☆49Updated 8 months ago
- List of IARC bioinformatics nextflow pipelines☆51Updated 6 months ago
- For biological deep sequencing data. Decompose a UCSC knownGenes/Ensembl GTF file into transcript regions (i.e. exons, introns, UTRs and…☆35Updated 2 years ago
- ☆51Updated 5 years ago
- Maximum likelihood demultiplexing☆47Updated 5 months ago
- Genomes on the Cloud, Mapping & Variant Calling Pipelines☆34Updated 8 years ago
- Splice junction analysis and filtering from BAM files☆40Updated 3 years ago
- R package for inferring copy number from read depth☆32Updated 2 years ago
- Integrative analysis of structural variations.☆40Updated last year
- 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
- BigWig and BAM utilities☆96Updated last year
- MetaSV: An accurate and integrative structural-variant caller for next generation sequencing☆56Updated 8 years ago
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆47Updated this week
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated 2 years ago
- Adapters for trimming☆30Updated 6 years ago
- Gene Fusion Visualiser☆51Updated 2 years ago
- Analysis of TE contribution to features (transcripts or simple features). Includes utils to test enrichment.☆27Updated 5 years ago
- for visual evaluation of read support for structural variation☆54Updated last year
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 5 years ago
- Evolutionary Transcriptomics with R☆44Updated last week
- small RNA analysis from NGS data☆37Updated 10 months ago
- Seeking information like heteroplasmy, structure variants, etc. on Mitochondrial genome from next generation sequencing☆40Updated 6 years ago
- Scripts to run copynumber variation calls on tumor and normal BAM files using Varscan2☆29Updated 7 years ago
- Pipeline for structural variation detection in cohorts☆49Updated 3 years ago
- Comprehensive benchmark of structural variant callers☆46Updated 4 years ago
- Useful tools for working with Salmon output☆38Updated 5 years ago
- Generic human DNA variant annotation pipeline☆58Updated last year
- mity: A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing data☆36Updated last month