JiguangPeng / autopvs1Links
An automatic classification tool for PVS1 interpretation of null variants
☆43Updated last year
Alternatives and similar repositories for autopvs1
Users that are interested in autopvs1 are comparing it to the libraries listed below
Sorting:
- ☆54Updated 3 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆70Updated 2 years ago
- Helper scripts for biological data processing from Sentieon☆64Updated this week
- Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium…☆83Updated 3 years ago
- ☆36Updated 4 years ago
- ☆43Updated last year
- CNV screening and annotation tool☆25Updated 9 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Updated last year
- ☆13Updated 4 years ago
- Converts snpeff annotations into MAF☆11Updated last year
- A simplified pipeline for ctDNA sequencing data analysis☆37Updated 8 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated 2 months ago
- A suite of tools for detecting expansions of short tandem repeats☆84Updated 2 years ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆99Updated 3 years ago
- Evaluate the performances (precision and recall) of structural variation (SV) callers☆35Updated 4 months ago
- WisecondorX — An evolved WISECONDOR☆111Updated 2 months ago
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆91Updated 4 months ago
- Phenotype driven gene prioritization for HPO☆51Updated 4 years ago
- ☆16Updated 4 years ago
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆46Updated 6 years ago
- Tools for processing and analyzing structural variants.☆34Updated 10 years ago
- Benchmarking of CNV calling tools☆18Updated 6 years ago
- HLA typing for Sanger Based Test☆19Updated 2 years ago
- Framework to process and call somatic variation from NGS dataset generated using MSK-IMPACT assay☆57Updated 4 years ago
- Microsatellite Instability (MSI) detection using high-throughput sequencing data.☆115Updated 10 months ago
- Microsatellite Analysis for Normal-Tumor InStability☆75Updated 3 years ago
- Tool to find regions of homozygosity (ROHs) from sequencing data.☆35Updated last year
- ⛏ HLA predictions from NGS shotgun data☆55Updated 7 months ago
- CN-Learn☆30Updated 6 years ago
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆77Updated 7 months ago