CenterForMedicalGeneticsGhent / HoplaLinks
Streamlined duo/trio analysis and pedigree haplotyping: from VCF to interactive HTML
☆15Updated last year
Alternatives and similar repositories for Hopla
Users that are interested in Hopla are comparing it to the libraries listed below
Sorting:
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 5 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- Somatic point mutation caller☆17Updated 9 years ago
- Accucopy is a computational method that infers Allele-Specific Copy Number alterations from low-coverage low-purity tumor sequencing data…☆17Updated last year
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 3 years ago
- Aggregation and analyses of rare CNVs across diseases☆15Updated 2 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆25Updated 7 years ago
- Framework to benchmark algorithms when detecting germline copy number variations (CNVs) from NGS data☆14Updated last year
- A webtool for the clinical interpretation of CNVs in rare disease patients☆12Updated 3 years ago
- CNV Rapid Aberration Detection And Reporting☆12Updated 4 years ago
- ☆26Updated last year
- Advanced plotting functions for CNV data generated by CNV-Seq and Control Freec☆13Updated 5 years ago
- Python scripts for matching output of Pacific Biosciences IsoSeq RNA-seq pipeline to an annotation file.☆23Updated 10 years ago
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆38Updated 5 years ago
- wg-blimp: an end-to-end analysis pipeline for whole genome bisulfite sequencing data☆29Updated 3 years ago
- Automated human exome/genome variants detection from FASTQ files☆23Updated 4 years ago
- A method to identify structural variation from sequencing data in target regions☆32Updated 5 years ago
- Codes and Data for FFPEsig manuscript☆17Updated 2 years ago
- BIC@MSKCC Variants Pipeline☆23Updated 2 years ago
- CNV detection tool for targeted NGS panel data☆16Updated 3 years ago
- Computes various SV statistics☆14Updated 2 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated last month
- smCounter: a versatile UMI-aware variant caller to detect both somatic and germline SNVs and indels. Published in article "Detecting very…☆20Updated 6 years ago
- A collection of tools to deal with Bisulfite-seq/NOMe-seq (SNP/Methylation calling: BisSNP; HMM segmentation: DMNTools; Visualization/Clu…☆32Updated 4 years ago
- Linkage disequlibrium-informed PGT-A (LD-PGTA). A package for detecting genotypic signatures of aneuploidy from extremely low-coverage se…☆18Updated 3 years ago
- CAVA (Clinical Annotation of VAriants)☆14Updated 7 years ago
- Clin-mNGS: Automated pipeline for pathogen detection from clinical metagenomic data☆18Updated 4 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated 5 months ago
- Example datasets for CNVkit (http://github.com/etal/cnvkit)☆23Updated 7 years ago
- Scripts involved in our workflow for detecting CNVs from WGS data using read depth-based methods☆46Updated 3 years ago