robinandeer / puzzleLinks
Variant caller GUI + genetic disease analysis
☆22Updated 5 years ago
Alternatives and similar repositories for puzzle
Users that are interested in puzzle are comparing it to the libraries listed below
Sorting:
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- An awk-like VCF parser☆56Updated last year
- A method to identify structural variation from sequencing data in target regions☆31Updated 4 years ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆56Updated 3 years ago
- Python package and routines for merging VCF files☆29Updated 4 years ago
- Prioritize structural variants based on CADD scores☆29Updated 5 years ago
- Chanjo provides a better way to analyze coverage data in clinical sequencing.☆50Updated 5 months ago
- The Exome Coverage and Identification Report displays the coverage of every target region in your capture design. It also displays regio…☆14Updated 10 years ago
- heuristics to merge structural variant calls in VCF format.☆36Updated 8 years ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- Wrapper for RTG's vcfeval; DEPRECATED!☆21Updated 9 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 5 years ago
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated 2 years ago
- create a gemini-compatible database from a VCF☆56Updated 4 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- QC3, a quality control tool designed for DNA sequencing data for raw data, alignment, and variant calling.☆32Updated 9 years ago
- A tool to benchmark mappers and different parameters within minutes☆44Updated 5 years ago
- Genomes on the Cloud, Mapping & Variant Calling Pipelines☆34Updated 8 years ago
- ☆46Updated 5 years ago
- The integrated pipeline for Indel detection☆17Updated 7 years ago
- Read visualizer for structural variants☆84Updated 6 years ago
- Pipeline for structural variant image curation and analysis.☆48Updated 3 years ago
- FermiKit small variant calls for public SGDP samples☆17Updated 8 years ago
- Filtering and profiling of next-generational sequencing data using region-specific rules☆77Updated last year
- 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
- utilities for working with IGV: opening files remotely in either desktop IGV or a web viewer (igv.js), creating screenshots, etc.☆49Updated 6 years ago
- for detecting internal tandem duplication from genome sequence data.☆11Updated 6 years ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago