HKU-BAL / AutoPM3View external linksLinks
☆18Jul 28, 2025Updated 6 months ago
Alternatives and similar repositories for AutoPM3
Users that are interested in AutoPM3 are comparing it to the libraries listed below
Sorting:
- Fast, accurate and simple to use command line tool for variant detection in NGS data.☆12Sep 3, 2019Updated 6 years ago
- Interactive table from gemini output☆10Mar 5, 2019Updated 6 years ago
- This is the official development repository for BaseVar, which call variants for large-scale ultra low-pass (<1.0x) WGS data, especially …☆27Jul 28, 2025Updated 6 months ago
- Predicting oncogenic potential of gene fusions☆12Feb 13, 2016Updated 10 years ago
- A tool for diagnosing SMA in exome, genome or targeted sequencing data☆13Apr 30, 2025Updated 9 months ago
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 5 years ago
- extract SV signal from a BAM☆11Jul 26, 2018Updated 7 years ago
- SANEFALCON (Single reAds Nucleosome-basEd FetAL fraCtiON): Calculating the fetal fraction for noninvasive prenatal testing based on genom…☆14Jun 5, 2020Updated 5 years ago
- BAMixChecker: A fast and efficient tool for sample matching checkup☆15Jun 12, 2022Updated 3 years ago
- Streamlined duo/trio analysis and pedigree haplotyping: from VCF to interactive HTML☆15Oct 30, 2024Updated last year
- Advanced plotting functions for CNV data generated by CNV-Seq and Control Freec☆13Aug 25, 2020Updated 5 years ago
- MrMosaic (Genomic Mosaic Structural Variant Caller)☆15Jul 21, 2017Updated 8 years ago
- Computes various SV statistics☆14Oct 12, 2023Updated 2 years ago
- ☆17Oct 17, 2024Updated last year
- ☆15Jan 19, 2018Updated 8 years ago
- SpliceWiz is an R package for exploring differential alternative splicing events in splice-aware alignment BAM files.☆21Dec 10, 2025Updated 2 months ago
- Seave is a web platform that enables genetic variants to be easily filtered and annotated with in silico pathogenicity prediction scores …☆16Aug 9, 2018Updated 7 years ago
- Toolkit for extracting SVs from long sequences and benchmarking variant callers☆13Jan 10, 2017Updated 9 years ago
- Allele frequency filtering for Mendelian variant discovery☆18Sep 27, 2016Updated 9 years ago
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆38Jul 30, 2020Updated 5 years ago
- MegaPath-Nano: Accurate Compositional Analysis and Drug-level Antimicrobial Resistance Detection Software for Oxford Nanopore Long-read M…☆13Jul 2, 2022Updated 3 years ago
- Accucopy is a computational method that infers Allele-Specific Copy Number alterations from low-coverage low-purity tumor sequencing data…☆17Mar 6, 2024Updated last year
- iAnnotateSV is a Python library and command-line software toolkit to annotate and visualize structural variants detected from Next Genera…☆16Dec 31, 2025Updated last month
- ☆18Mar 14, 2022Updated 3 years ago
- Short reads aligner for NIPT/CNV☆16Oct 10, 2018Updated 7 years ago
- Human mitochondrial variants annotation using HmtVar.☆18Oct 16, 2023Updated 2 years ago
- Website to analyze conflicting assertions in ClinVar☆19Jan 24, 2026Updated 3 weeks ago
- VPOT - Variant Prioritisation Ordering Tool. VPOT is a Python tool written to allow prioritisation of variants in ANNOVAR annotated VCF f…☆19Oct 27, 2021Updated 4 years ago
- ☆21Aug 30, 2022Updated 3 years ago
- Pangolin is a deep-learning method for predicting splice site strengths.☆85Jun 17, 2024Updated last year
- smCounter: a versatile UMI-aware variant caller to detect both somatic and germline SNVs and indels. Published in article "Detecting very…☆20Apr 9, 2019Updated 6 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Jan 28, 2026Updated 2 weeks ago
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆55Oct 9, 2025Updated 4 months ago
- myVCF: a web-based platform for target and exome mutations data management☆20Apr 13, 2021Updated 4 years ago
- ☆16Dec 19, 2016Updated 9 years ago
- ☆22May 16, 2023Updated 2 years ago
- Easy Copy Number !☆21Aug 27, 2025Updated 5 months ago
- A small repo for storing the code for making the files and html for CCRs.☆22Oct 22, 2019Updated 6 years ago
- Website for checking a variant's SpliceAI, Pangolin, and other scores:☆29Updated this week