mlin / spVCF
Sparse Project VCF: evolution of VCF to encode population genotype matrices efficiently
☆58Updated last year
Alternatives and similar repositories for spVCF:
Users that are interested in spVCF are comparing it to the libraries listed below
- (WIP) best-practices workflow for rare disease☆60Updated 10 months ago
- Graphite - Graph-based variant adjudication☆28Updated 4 years ago
- MetaSV: An accurate and integrative structural-variant caller for next generation sequencing☆55Updated 7 years ago
- SV detection from paired end reads mapping☆38Updated 14 years ago
- A utility for merging and genotyping Illumina-style GVCFs.☆33Updated 6 years ago
- create a gemini-compatible database from a VCF☆56Updated 4 years ago
- Filtering and profiling of next-generational sequencing data using region-specific rules☆25Updated 8 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
- ☆54Updated 4 years ago
- heuristics to merge structural variant calls in VCF format.☆36Updated 8 years ago
- Aligner for sequencing data☆21Updated 9 years ago
- Method for detecting STR expansions from short-read sequencing data☆62Updated 3 years ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆56Updated 3 years ago
- don't get DUP'ed or DEL'ed by your putative SVs.☆105Updated 4 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- Variant Interpretation Pipeline☆25Updated last week
- pathoscore evaluates variant pathogenicity tools and scores.☆21Updated 3 years ago
- A tool to benchmark mappers and different parameters within minutes☆44Updated 5 years ago
- Structural Variant Index☆72Updated 4 months ago
- Assembly Based ReAligner☆73Updated 6 years ago
- Genomes on the Cloud, Mapping & Variant Calling Pipelines☆34Updated 8 years ago
- Fast fusion detection using kallisto☆80Updated 6 months ago
- utilities for working with IGV: opening files remotely in either desktop IGV or a web viewer (igv.js), creating screenshots, etc.☆48Updated 5 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- Transcript versions for HGVS libraries☆30Updated 3 months ago
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated 2 years ago
- Exploration of controlled loss of quality values for compressing CRAM files☆34Updated 2 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
- Deduplication based on custom inline DNA barcodes.☆21Updated 6 years ago