JiguangPeng / autopvs1Links
An automatic classification tool for PVS1 interpretation of null variants
☆42Updated last year
Alternatives and similar repositories for autopvs1
Users that are interested in autopvs1 are comparing it to the libraries listed below
Sorting:
- ☆54Updated 2 years ago
- Helper scripts for biological data processing from Sentieon☆64Updated last month
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆69Updated 2 years ago
- ☆36Updated 4 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated this week
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Updated last year
- ☆43Updated last year
- A simplified pipeline for ctDNA sequencing data analysis☆37Updated 8 years ago
- Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium…☆82Updated 3 years ago
- CNV screening and annotation tool☆25Updated 9 years ago
- Converts snpeff annotations into MAF☆11Updated last year
- ☆13Updated 3 years ago
- A standalone end-to-end data analysis pipeline for Duplex Sequencing☆20Updated 2 years ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆98Updated 3 years ago
- A suite of tools for detecting expansions of short tandem repeats☆83Updated 2 years ago
- WisecondorX — An evolved WISECONDOR☆107Updated 3 months ago
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆43Updated 6 years ago
- VerifyBamID2: A robust tool for DNA contamination estimation from sequence reads using ancestry-agnostic method.☆99Updated last year
- Benchmarking of CNV calling tools☆18Updated 6 years ago
- CN-Learn☆30Updated 5 years ago
- Microsatellite Analysis for Normal-Tumor InStability☆76Updated 3 years ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 3 years ago
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆50Updated 2 years ago
- Concordance and contamination estimator for tumor–normal pairs☆58Updated last year
- ☆16Updated 4 years ago
- Tools for processing and analyzing structural variants.☆33Updated 10 years ago
- A tool for profiling long STRs from short reads☆102Updated 4 years ago
- Microsatellite instability (MSI) detection for cfDNA samples.☆20Updated 4 years ago
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆51Updated last month
- Gene fusion detection and visualization☆127Updated 3 years ago