ssadedin / ximmer
Ximmer is a system for CNV calling on exome and targeted genomic sequencing
☆19Updated this week
Alternatives and similar repositories for ximmer:
Users that are interested in ximmer are comparing it to the libraries listed below
- Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer☆21Updated 4 years ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆27Updated 6 months ago
- extract SV signal from a BAM☆11Updated 6 years ago
- PopSTR - A Population based microsatellite genotyper☆32Updated last year
- RCK: Reconstruction of clone- and haplotype-specific Cancer Karyotypes☆17Updated 4 years ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 8 years ago
- Prioritize structural variants based on CADD scores☆28Updated 4 years ago
- Reducing reference bias using multiple population reference genomes☆32Updated 7 months ago
- v2.x of the microassembly based somatic variant caller☆14Updated 4 months ago
- Functions to compare a SV call sets against a truth set.☆28Updated 8 months ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 2 years ago
- ☆21Updated last year
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆25Updated 7 months ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- picking up low allelic-fraction, somatic variants from tumor samples☆14Updated 7 years ago
- Python package and routines for merging VCF files☆29Updated 3 years ago
- ☆11Updated last year
- A set of tools to annotate VCF files with expression and readcount data☆26Updated 4 months 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
- Tools to gather evidence for structural variation via breakpoint detection.☆19Updated last month
- ☆21Updated this week
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 6 years ago
- a Shiny/R application to view and annotate copy number variations☆28Updated last year
- full taxonomer cython repository☆22Updated 5 years ago
- Fast, accurate and simple to use command line tool for variant detection in NGS data.☆10Updated 5 years 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
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 5 years ago
- iAnnotateSV is a Python library and command-line software toolkit to annotate and visualize structural variants detected from Next Genera…☆16Updated 3 weeks ago