molgenis / CoNVaDING
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
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆28Updated 8 months ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 2 weeks 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☆27Updated 9 months ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 6 years ago
- Structural variant VCF annotation, duplicate removal and comparison☆30Updated 3 weeks ago
- BAMixChecker: A fast and efficient tool for sample matching checkup☆14Updated 2 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
- Reproducibility workflow for Gigante et al., 2018: Using long-read sequencing to detect imprinted DNA methylation☆23Updated 6 years ago
- Integrative analysis of complex structural variants☆21Updated 4 years ago
- Pipeline for structural variant image curation and analysis.☆48Updated 3 years ago
- Prioritize structural variants based on CADD scores☆28Updated 4 years ago
- ☆23Updated 7 months ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆56Updated 3 years ago
- CAVA (Clinical Annotation of VAriants)☆14Updated 6 years ago
- Tools for processing and analyzing structural variants.☆33Updated 9 years ago
- Structural variant (SV) analysis tools☆35Updated 8 months ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- A new tool to infer sex from massively parallel sequencing data.☆16Updated 9 months ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago
- Genotyping of segregating mobile elements insertions☆19Updated 3 years ago
- Specific Transposable Element Aligner (HERV-K)☆16Updated 5 years ago
- v2.x of the microassembly based somatic variant caller☆20Updated this week
- QC3, a quality control tool designed for DNA sequencing data for raw data, alignment, and variant calling.☆32Updated 8 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 5 years ago
- ☆21Updated 3 months ago
- PopSTR - A Population based microsatellite genotyper☆32Updated last year
- CNV detection tool for targeted NGS panel data☆16Updated 3 years ago
- heuristics to merge structural variant calls in VCF format.☆36Updated 8 years ago