ShujiaHuang / basevar
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
☆25Updated 3 weeks ago
Related projects ⓘ
Alternatives and complementary repositories for basevar
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆22Updated last year
- Linkage disequlibrium-informed PGT-A (LD-PGTA). A package for detecting genotypic signatures of aneuploidy from extremely low-coverage se…☆16Updated 2 years ago
- Structural variant merging tool☆45Updated 2 months ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆33Updated 4 months ago
- Tools for processing and analyzing structural variants.☆32Updated 9 years ago
- Converts snpeff annotations into MAF☆10Updated 2 months ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆46Updated 4 years ago
- ☆39Updated 2 months ago
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆37Updated last month
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆60Updated last year
- ☆16Updated 3 years ago
- ☆36Updated 7 months ago
- Scripts and utilities related to analyzing short tandem repeats (STRs).☆30Updated last month
- Pipeline for structural variation detection in cohorts☆48Updated 3 years ago
- heuristics to merge structural variant calls in VCF format.☆35Updated 8 years ago
- Tool to find regions of homozygosity (ROHs) from sequencing data.☆28Updated 5 months ago
- Microsatellite instability (MSI) detection for cfDNA samples.☆18Updated 3 years ago
- A variant caller for the GBA gene using WGS data☆21Updated 3 months ago
- Structural variant caller☆54Updated 2 years ago
- ☆35Updated 3 years ago
- ☆51Updated 5 years ago
- A pipeline for isoseq☆23Updated 6 years ago
- Public Benchmark of Long-Read Structural Variant Caller on PacBio CCS HG002 Data☆48Updated 3 years ago
- Structural Variants Pipeline for Long Reads☆44Updated 6 years ago
- Code for phasing SVs with SNPs☆52Updated 4 years ago
- Genotype and phase short tandem repeats using Illumina whole-genome sequencing data☆27Updated 3 years ago
- Python scripts for matching output of Pacific Biosciences IsoSeq RNA-seq pipeline to an annotation file.☆24Updated 9 years ago
- CN-Learn☆29Updated 4 years ago
- Error correction of ONT transcript reads☆58Updated last year
- ENCODE long read RNA-seq pipeline☆44Updated last year