rhshah / iCallSV
A Framework to call Structural Variants from NGS based datasets
☆22Updated 7 years ago
Alternatives and similar repositories for iCallSV:
Users that are interested in iCallSV are comparing it to the libraries listed below
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 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
- Simplify snpEff annotations for interesting cases☆21Updated 6 years ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 8 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 6 years ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 6 years 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
- A method to identify structural variation from sequencing data in target regions☆31Updated 4 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 5 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆28Updated 8 months ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer☆21Updated 4 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated last month
- Prioritize structural variants based on CADD scores☆28Updated 4 years ago
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated last year
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year
- Python package and routines for merging VCF files☆29Updated 3 years ago
- Reproducibility workflow for Gigante et al., 2018: Using long-read sequencing to detect imprinted DNA methylation☆23Updated 6 years ago
- QC3, a quality control tool designed for DNA sequencing data for raw data, alignment, and variant calling.☆32Updated 8 years ago
- simple library for dealing with SAM cigar strings☆40Updated 4 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆27Updated 9 months ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 2 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated last week
- ☆29Updated 4 years ago
- Filters for false-positive mutation calls in NGS☆30Updated 5 years ago
- Filtering and profiling of next-generational sequencing data using region-specific rules☆25Updated 8 years ago