asifrim / mrmosaic
MrMosaic (Genomic Mosaic Structural Variant Caller)
☆15Updated 7 years ago
Related projects ⓘ
Alternatives and complementary repositories for mrmosaic
- A tool to detect postzygotic single-nucleotide mosaicism from unpaired, trio, or paired samples.☆13Updated 3 years ago
- Prioritize structural variants based on CADD scores☆28Updated 4 years ago
- Plot CNV data with a genome viewer in R☆15Updated 7 years ago
- A set of tools to annotate VCF files with expression and readcount data☆25Updated 2 months ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆25Updated 5 months ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆27Updated 4 months ago
- RCK: Reconstruction of clone- and haplotype-specific Cancer Karyotypes☆17Updated 4 years ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Location of public benchmarking; primarily final results☆18Updated 2 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 3 years ago
- Reproducibility workflow for Gigante et al., 2018: Using long-read sequencing to detect imprinted DNA methylation☆22Updated 5 years ago
- ☆51Updated 5 years ago
- CNV detection tool for targeted NGS panel data☆16Updated 2 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 2 years ago
- Structural variant VCF annotation, duplicate removal and comparison☆27Updated 2 months ago
- TREDPARSE: HLI Short Tandem Repeat (STR) caller☆24Updated 4 years ago
- ☆23Updated 5 years ago
- A variant caller for the GBA gene using WGS data☆21Updated 3 months ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 6 years ago
- Structural variant (SV) analysis tools☆36Updated 4 months ago
- Computes various SV statistics☆14Updated last year
- Sample Contamination Estimate from VCF☆19Updated 2 weeks ago
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆20Updated 4 years ago
- ☆21Updated 3 months ago
- PopSTR - A Population based microsatellite genotyper☆32Updated last year
- SVsim: a tool that generates synthetic Structural Variant calls as benchmarks to test/evaluate SV calling pipelines.☆16Updated 6 years ago
- Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer☆21Updated 3 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated 3 months ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 8 years ago