ShujiaHuang / basevarLinks
This is the official development repository for BaseVar, which call variants for large-scale ultra low-pass (<1.0x) WGS data, especially for NIPT data
☆27Updated 4 months ago
Alternatives and similar repositories for basevar
Users that are interested in basevar are comparing it to the libraries listed below
Sorting:
- Tools for processing and analyzing structural variants.☆34Updated 10 years ago
- Structural variant merging tool☆57Updated last year
- Pipeline for structural variation detection in cohorts☆52Updated 4 years ago
- ☆33Updated last year
- A variant caller for the GBA gene using WGS data☆23Updated last year
- Linkage disequlibrium-informed PGT-A (LD-PGTA). A package for detecting genotypic signatures of aneuploidy from extremely low-coverage se…☆18Updated 3 years ago
- ☆51Updated 6 years ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆39Updated 2 weeks ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆48Updated 5 years ago
- CN-Learn☆30Updated 5 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated 2 weeks ago
- Fast and scalable variant annotation tool☆30Updated 3 years ago
- Variant annotation and merging pipeline☆41Updated 4 months ago
- Microsatellite instability (MSI) detection for cfDNA samples.☆20Updated 4 years ago
- A simple script to create a customizable html file from an AnnotSV output.☆19Updated last year
- BamDeal: a comprehensive toolkit for bam manipulation☆54Updated 2 years ago
- Python scripts for matching output of Pacific Biosciences IsoSeq RNA-seq pipeline to an annotation file.☆23Updated 10 years ago
- The tutorial for performing single-/multi-trait association analysis of whole-genome/whole-exome sequencing (WGS/WES) studies using FAVOR…☆32Updated last year
- Comprehensive benchmark of structural variant callers☆48Updated 4 years ago
- An accurate repeat detection from Nanopore data using deep learning and image techniques☆24Updated 2 years ago
- Identify and annotate TE-mediated insertions in long-read sequence data☆46Updated 5 months ago
- Code and custom scripts relevant to gnomAD-SV (Collins*, Brand*, et al., 2020)☆37Updated 5 years ago
- A new tool to infer sex from massively parallel sequencing data.☆17Updated 6 months ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Updated last year
- microRNA PREdiction From small RNA-seq data☆30Updated 7 years ago
- Structural variant caller☆55Updated 4 years ago
- SQANTI2 is now replaced by SQANTI3. Please go to: https://github.com/ConesaLab/SQANTI3☆38Updated 5 years ago
- An insertion caller for Illumina paired-end WGS data.☆23Updated 3 months ago
- heuristics to merge structural variant calls in VCF format.☆38Updated 9 years ago
- Copy number estimation and variant calling for duplicated genes using WGS.☆30Updated 2 months ago