jzook / genome-data-integrationLinks
Methods to integrate data from multiple genome sequencing datasets and form consensus variant calls
☆44Updated 3 years ago
Alternatives and similar repositories for genome-data-integration
Users that are interested in genome-data-integration are comparing it to the libraries listed below
Sorting:
- ☆51Updated 6 years ago
- Public Benchmark of Long-Read Structural Variant Caller on PacBio CCS HG002 Data☆51Updated 4 years ago
- Python scripts for matching output of Pacific Biosciences IsoSeq RNA-seq pipeline to an annotation file.☆23Updated 9 years ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆48Updated 5 years ago
- ☆35Updated 4 years ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆35Updated last month
- Tools for processing and analyzing structural variants.☆33Updated 10 years ago
- Structural variant caller☆55Updated 3 years ago
- ☆44Updated last year
- heuristics to merge structural variant calls in VCF format.☆36Updated 8 years ago
- Structural Variants Pipeline for Long Reads☆44Updated 7 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆33Updated 2 years ago
- Read visualizer for structural variants☆84Updated 7 years ago
- A collection of command line tools for working with sequencing data☆51Updated 3 weeks ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- A new tool to infer sex from massively parallel sequencing data.☆17Updated 4 months ago
- Concordance and contamination estimator for tumor–normal pairs☆58Updated 10 months ago
- ☆49Updated 10 months ago
- Support Vector Structural Variation Genotyper☆58Updated 5 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆72Updated last year
- Filtering and profiling of next-generational sequencing data using region-specific rules☆79Updated last year
- TIDDIT - structural variant calling☆76Updated 5 months ago
- A snakemake pipeline for SV analysis from nanopore genome sequencing☆51Updated 5 years ago
- Specifications for PacBio® native file formats☆31Updated 9 months ago
- Tools for the analysis of structural variation in genomes☆81Updated last year
- Comprehensive benchmark of structural variant callers☆46Updated 4 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated last month
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆58Updated 3 years ago
- MetaSV: An accurate and integrative structural-variant caller for next generation sequencing☆58Updated 8 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated 2 years ago