AstraZeneca-NGS / simple_sv_annotationLinks
Simplify snpEff annotations for interesting cases
☆22Updated 6 years ago
Alternatives and similar repositories for simple_sv_annotation
Users that are interested in simple_sv_annotation are comparing it to the libraries listed below
Sorting:
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆25Updated 9 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 5 years ago
- A Framework to call Structural Variants from NGS based datasets☆22Updated 8 years ago
- Python package and routines for merging VCF files☆29Updated 4 years ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated 2 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 4 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 6 years ago
- smCounter: a versatile UMI-aware variant caller to detect both somatic and germline SNVs and indels. Published in article "Detecting very…☆20Updated 6 years ago
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆38Updated 5 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated 5 months ago
- Splice junction analysis and filtering from BAM files☆42Updated 3 years ago
- create a gemini-compatible database from a VCF☆55Updated 5 years ago
- for visual evaluation of read support for structural variation☆56Updated last year
- Personal diploid genome creation and coordinate conversion☆30Updated 10 months ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆30Updated 4 years ago
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated 2 years ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆58Updated 3 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- Variant catalogue pipeline☆26Updated last week
- ☆35Updated 4 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆36Updated 2 years ago
- (WIP) best-practices workflow for rare disease☆62Updated last year
- A method to identify structural variation from sequencing data in target regions☆32Updated 5 years ago
- Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies☆18Updated 2 years ago
- Mapped QC analysis program☆43Updated 7 years ago
- Prepare Sailfish and Salmon output for downstream analysis☆42Updated 6 years ago
- Immuological gene typing and annotation for genome assembly☆38Updated 10 months ago
- mity: A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing data☆40Updated 5 months ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated 2 weeks ago
- ☆29Updated 4 years ago