tprodanov / parascopyLinks
Copy number estimation and variant calling for duplicated genes using WGS.
☆27Updated 3 weeks ago
Alternatives and similar repositories for parascopy
Users that are interested in parascopy are comparing it to the libraries listed below
Sorting:
- Public Benchmark of Long-Read Structural Variant Caller on PacBio CCS HG002 Data☆51Updated 4 years ago
- Identify and annotate TE-mediated insertions in long-read sequence data☆42Updated last month
- A tutorial on structural variant calling for short read sequencing data☆39Updated 9 months ago
- ☆51Updated 5 years ago
- ☆35Updated 4 years ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆33Updated 2 weeks ago
- Set of tools to manipulate and visualize modified base bam files☆56Updated 3 years ago
- Variant annotation and merging pipeline☆39Updated 2 weeks ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆48Updated 5 years ago
- Pipeline for structural variation detection in cohorts☆49Updated 3 years ago
- ☆43Updated 11 months ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- SQANTI2 is now replaced by SQANTI3. Please go to: https://github.com/ConesaLab/SQANTI3☆38Updated 5 years ago
- ☆39Updated last year
- Tools for processing and analyzing structural variants.☆33Updated 9 years ago
- StrVCTVRE, a structural variant classifier for exonic deletions and duplications☆19Updated last year
- Linkage disequlibrium-informed PGT-A (LD-PGTA). A package for detecting genotypic signatures of aneuploidy from extremely low-coverage se…☆17Updated 2 years ago
- Code for phasing SVs with SNPs☆52Updated 5 years ago
- This repo is be archived, these workflows are still housed housed in the GATK repository under the scripts directory. The workflows are a…☆22Updated 5 years ago
- heuristics to merge structural variant calls in VCF format.☆36Updated 8 years ago
- Structural variant caller☆54Updated 3 years ago
- Code and custom scripts relevant to gnomAD-SV (Collins*, Brand*, et al., 2020)☆36Updated 5 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆24Updated 2 years ago
- Structural variant merging tool☆53Updated 11 months ago
- MethPhaser: methylation-based haplotype phasing of human genomes☆48Updated 5 months ago
- A software for calculating telomere length☆70Updated 6 years ago
- Error correction of ONT transcript reads☆58Updated last year
- Long-read splice alignment with high accuracy☆64Updated 10 months ago
- ☆36Updated 2 years ago
- LongcallR is a SNP caller for single molecule long-read RNA-seq data☆63Updated this week