molgenis / CoNVaDINGLinks
Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV) detection in high coverage next-generation sequencing (NGS) data
☆21Updated 4 years ago
Alternatives and similar repositories for CoNVaDING
Users that are interested in CoNVaDING are comparing it to the libraries listed below
Sorting:
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆29Updated 10 months ago
- Plot CNV data with a genome viewer in R☆15Updated 8 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
- Structural variant VCF annotation, duplicate removal and comparison☆33Updated 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 7 years ago
- A new tool to infer sex from massively parallel sequencing data.☆17Updated 3 weeks ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆28Updated last year
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 3 months ago
- Microsatellite instability (MSI) detection for cfDNA samples.☆19Updated 4 years ago
- BAMixChecker: A fast and efficient tool for sample matching checkup☆14Updated 2 years ago
- Computes various SV statistics☆14Updated last year
- Prioritize structural variants based on CADD scores☆29Updated 5 years ago
- heuristics to merge structural variant calls in VCF format.☆36Updated 8 years ago
- v2.x of the microassembly based somatic variant caller☆23Updated last month
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago
- PopSTR - A Population based microsatellite genotyper☆33Updated last year
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Reproducibility workflow for Gigante et al., 2018: Using long-read sequencing to detect imprinted DNA methylation☆23Updated 6 years ago
- Pipeline for structural variant image curation and analysis.☆48Updated 3 years ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆56Updated 3 years ago
- Viola is a flexible and powerful python package designed specifically for analysis of genomic structural variant (SV) signatures.☆26Updated 10 months ago
- SVsim: a tool that generates synthetic Structural Variant calls as benchmarks to test/evaluate SV calling pipelines.☆17Updated 7 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- ☆40Updated 8 months ago
- Python package and routines for merging VCF files☆29Updated 4 years ago
- CNV detection tool for targeted NGS panel data☆16Updated 3 years ago
- Tools for processing and analyzing structural variants.☆33Updated 9 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 5 years ago
- Pipeline for structural variation detection in cohorts☆49Updated 3 years ago