JiguangPeng / autopvs1
An automatic classification tool for PVS1 interpretation of null variants
☆35Updated 8 months ago
Related projects ⓘ
Alternatives and complementary repositories for autopvs1
- ☆50Updated last year
- ☆35Updated 3 years ago
- ☆36Updated 7 months ago
- Helper scripts for biological data processing from Sentieon☆63Updated 3 weeks ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆66Updated 2 months ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆96Updated 2 years ago
- ☆38Updated 9 months ago
- Converts snpeff annotations into MAF☆10Updated 3 months ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆60Updated last year
- Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium…☆75Updated 2 years ago
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆49Updated last year
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆22Updated last year
- CN-Learn☆29Updated 4 years ago
- Microsatellite instability (MSI) detection for cfDNA samples.☆18Updated 3 years ago
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆38Updated last month
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 2 years ago
- CNV screening and annotation tool☆24Updated 8 years ago
- Tool to find regions of homozygosity (ROHs) from sequencing data.☆28Updated 5 months ago
- PCR Primer Quality Control☆59Updated 8 months ago
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆40Updated 5 years ago
- This is the official development repository for BaseVar, which call variants for large-scale ultra low-pass (<1.0x) WGS data, especially …☆25Updated 3 weeks ago
- WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR): Detect fetal trisomies and smaller CNV's in a maternal plasma sample using wh…☆44Updated 6 months ago
- ENCODE long read RNA-seq pipeline☆44Updated last year
- HLA typing for Sanger Based Test☆17Updated last year
- Tools for processing and analyzing structural variants.☆32Updated 9 years ago
- This WDL pipeline implements data pre-processing and initial variant calling according to the GATK Best Practices for germline SNP and In…☆50Updated 4 years ago
- Microsatellite Analysis for Normal-Tumor InStability☆69Updated 2 years ago
- VerifyBamID2: A robust tool for DNA contamination estimation from sequence reads using ancestry-agnostic method.☆94Updated 6 months ago
- Splicing Prediction Pipeline☆13Updated last year
- ☆15Updated 11 months ago