tprodanov / parascopyLinks
Copy number estimation and variant calling for duplicated genes using WGS.
☆27Updated 2 months ago
Alternatives and similar repositories for parascopy
Users that are interested in parascopy are comparing it to the libraries listed below
Sorting:
- Identify and annotate TE-mediated insertions in long-read sequence data☆46Updated 4 months ago
- MethPhaser: methylation-based haplotype phasing of human genomes☆50Updated 8 months ago
- A tutorial on structural variant calling for short read sequencing data☆38Updated last year
- Set of tools to manipulate and visualize modified base bam files☆57Updated 3 years ago
- Structural variant merging tool☆55Updated last year
- SQANTI2 is now replaced by SQANTI3. Please go to: https://github.com/ConesaLab/SQANTI3☆38Updated 5 years ago
- Genotype and phase short tandem repeats using Illumina whole-genome sequencing data☆32Updated 4 years ago
- Public Benchmark of Long-Read Structural Variant Caller on PacBio CCS HG002 Data☆51Updated 4 years ago
- Human reference genome analysis sets☆56Updated 2 years ago
- Error correction of ONT transcript reads☆58Updated 2 years ago
- ☆30Updated 4 years ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆37Updated 4 months ago
- Tools for processing and analyzing structural variants.☆33Updated 10 years ago
- A new tool to infer sex from massively parallel sequencing data.☆17Updated 6 months ago
- LongcallR is a SNP caller for single molecule long-read RNA-seq data☆69Updated 2 months ago
- Pipeline for structural variation detection in cohorts☆52Updated 4 years ago
- Variant annotation and merging pipeline☆39Updated 4 months ago
- Python scripts for matching output of Pacific Biosciences IsoSeq RNA-seq pipeline to an annotation file.☆23Updated 10 years ago
- ☆83Updated 8 months ago
- A Nextflow workflow to generate lift over files for any pair of genomes☆69Updated last week
- heuristics to merge structural variant calls in VCF format.☆38Updated 9 years ago
- An accurate repeat detection from Nanopore data using deep learning and image techniques☆24Updated 2 years ago
- A graph-based pipeline used to call/genotype snvs/indels/SVs from NGS data☆16Updated 2 months ago
- Structural variant caller☆55Updated 3 years ago
- Structural Variants Pipeline for Long Reads☆44Updated 7 years ago
- Code for phasing SVs with SNPs☆52Updated 5 years ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆38Updated last year
- This is the official development repository for BaseVar, which call variants for large-scale ultra low-pass (<1.0x) WGS data, especially …☆27Updated 4 months ago
- python plotly Circos from VCF☆40Updated last year
- Long read alignment analysis. Generate a reports on sequence alignments for mappability vs read sizes, error patterns, annotations and r…☆49Updated 7 years ago