asifrim / mrmosaic
MrMosaic (Genomic Mosaic Structural Variant Caller)
☆15Updated 7 years ago
Alternatives and similar repositories for mrmosaic:
Users that are interested in mrmosaic are comparing it to the libraries listed below
- A tool to detect postzygotic single-nucleotide mosaicism from unpaired, trio, or paired samples.☆13Updated 3 years ago
- Plot CNV data with a genome viewer in R☆15Updated 7 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆25Updated 7 months ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆27Updated 6 months ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Prioritize structural variants based on CADD scores☆28Updated 4 years ago
- A set of tools to annotate VCF files with expression and readcount data☆28Updated 4 months ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 6 years ago
- ☆19Updated 3 months ago
- Computes various SV statistics☆14Updated last year
- Reproducibility workflow for Gigante et al., 2018: Using long-read sequencing to detect imprinted DNA methylation☆23Updated 5 years ago
- Fast, accurate and simple to use command line tool for variant detection in NGS data.☆10Updated 5 years ago
- CNV detection tool for targeted NGS panel data☆16Updated 2 years ago
- ☆12Updated 9 months ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 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
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated this week
- Method to detect exonic CNVs in NGS Gene Targeted Panels☆16Updated 5 years ago
- Model files for Sentieon variant callers☆14Updated 5 months ago
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆21Updated 4 years ago
- ☆21Updated this week
- Python package and routines for merging VCF files☆29Updated 3 years ago
- VCF files of SVs using long-read sequencing (LRS).☆21Updated 3 years ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 5 years ago
- CAVA (Clinical Annotation of VAriants)☆14Updated 6 years ago
- iAnnotateSV is a Python library and command-line software toolkit to annotate and visualize structural variants detected from Next Genera…☆16Updated last month
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 8 years ago
- Accucopy is a computational method that infers Allele-Specific Copy Number alterations from low-coverage low-purity tumor sequencing data…☆15Updated 10 months ago
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 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