JiguangPeng / autopvs1Links
An automatic classification tool for PVS1 interpretation of null variants
☆36Updated last year
Alternatives and similar repositories for autopvs1
Users that are interested in autopvs1 are comparing it to the libraries listed below
Sorting:
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆66Updated 2 years ago
- ☆53Updated 2 years ago
- ☆36Updated 4 years ago
- HLA typing for Sanger Based Test☆17Updated 2 years ago
- Helper scripts for biological data processing from Sentieon☆64Updated 3 weeks ago
- ☆43Updated last year
- CNV screening and annotation tool☆25Updated 8 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆72Updated last year
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated 2 years ago
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆50Updated 3 weeks ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 2 years ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆98Updated 3 years ago
- Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium…☆82Updated 2 years ago
- WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR): Detect fetal trisomies and smaller CNV's in a maternal plasma sample using wh…☆46Updated last year
- Converts snpeff annotations into MAF☆11Updated last year
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆42Updated 5 years ago
- ☆13Updated 3 years ago
- CN-Learn☆30Updated 5 years ago
- Pipeline for universal design of target-enrichment probes from various sources of genomic data.☆28Updated 4 years ago
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆49Updated last year
- Microsatellite instability (MSI) detection for cfDNA samples.☆19Updated 4 years ago
- ONCOCNV - a package to detect copy number changes in Targeted Deep Sequencing and Exome-seq data☆25Updated 2 years ago
- ⛏ HLA predictions from NGS shotgun data☆54Updated 3 months ago
- WisecondorX — An evolved WISECONDOR☆102Updated 3 weeks ago
- ☆16Updated 4 years ago
- Microsatellite Instability (MSI) detection using high-throughput sequencing data.☆111Updated 5 months ago
- Tools for processing and analyzing structural variants.☆33Updated 10 years ago
- A suite of tools for detecting expansions of short tandem repeats☆82Updated 2 years ago
- A standalone end-to-end data analysis pipeline for Duplex Sequencing☆20Updated last year
- A tool for profiling long STRs from short reads☆99Updated 4 years ago