JiguangPeng / autopvs1Links
An automatic classification tool for PVS1 interpretation of null variants
☆35Updated last year
Alternatives and similar repositories for autopvs1
Users that are interested in autopvs1 are comparing it to the libraries listed below
Sorting:
- ☆36Updated 4 years ago
- ☆53Updated 2 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆69Updated 9 months ago
- CNV screening and annotation tool☆25Updated 8 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated 2 years ago
- ☆41Updated last year
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆98Updated 2 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆65Updated last year
- ☆13Updated 3 years ago
- Helper scripts for biological data processing from Sentieon☆64Updated 7 months ago
- A simplified pipeline for ctDNA sequencing data analysis☆36Updated 7 years ago
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆41Updated 5 years ago
- This WDL pipeline implements data pre-processing and initial variant calling according to the GATK Best Practices for germline SNP and In…☆53Updated 4 years ago
- scripts to automatically update ANNOVAR db☆18Updated 3 years ago
- Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium…☆79Updated 2 years ago
- A standalone end-to-end data analysis pipeline for Duplex Sequencing☆20Updated last year
- ☆39Updated last year
- This is the official development repository for BaseVar, which call variants for large-scale ultra low-pass (<1.0x) WGS data, especially …☆28Updated 3 months ago
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆49Updated last year
- Data and information about the Polaris study☆53Updated 5 years ago
- Framework to process and call somatic variation from NGS dataset generated using MSK-IMPACT assay☆56Updated 4 years ago
- Create "haplotype maps" of variants in order to use with Picardtools Crosscheck_Files utility, which allows for robust genotyping of func…☆28Updated last year
- ☆14Updated last year
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- HLA typing for Sanger Based Test☆17Updated 2 years 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
- WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR): Detect fetal trisomies and smaller CNV's in a maternal plasma sample using wh…☆44Updated last year
- Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104☆19Updated last year
- ☆89Updated 4 years ago
- Documenting usage and experience with bioinformatic tools☆41Updated 9 years ago