shiro-kur / PDIVASLinks
Pathogenic Predictor of Deep-Intronic Variants causing Aberrant Splicing
☆10Updated 9 months ago
Alternatives and similar repositories for PDIVAS
Users that are interested in PDIVAS are comparing it to the libraries listed below
Sorting:
- ☆22Updated 2 years ago
- Human reference genome analysis sets☆58Updated 2 years ago
- WDL’s and Dockerfiles for assembly QC process☆72Updated 6 months ago
- TIDDIT - structural variant calling☆78Updated 2 months ago
- LongcallR is a SNP caller for single molecule long-read RNA-seq data☆72Updated last month
- VEP Plugin to annotate high-impact five prime UTR variants☆28Updated last year
- Joint structural variant and copy number variant caller for HiFi sequencing data☆69Updated 3 months ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆36Updated 2 years ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆38Updated 9 months ago
- An insertion caller for Illumina paired-end WGS data.☆24Updated 5 months ago
- expressions on VCFs☆91Updated 9 months ago
- python plotly Circos from VCF☆40Updated last year
- Website for checking a variant's SpliceAI, Pangolin, and other scores:☆27Updated last week
- Complex structural variant visualization for HiFi sequencing data☆46Updated 3 months ago
- a tool for predicting mitochondrial DNA deletions using soft-clipping☆23Updated 4 years ago
- Fast and accurate coordinate conversion between assemblies☆118Updated 4 months ago
- Data from the Human PanGenomics Project☆61Updated 4 years ago
- Variant calling tool for long-read sequencing data☆117Updated 10 months ago
- ✂️ Deep learning-based splice site predictor that improves spliced alignments☆59Updated 11 months ago
- ClairS-TO - a deep-learning method for tumor-only somatic variant calling☆80Updated 2 months ago
- vcfdist: Accurately benchmarking phased variant calls☆84Updated 4 months ago
- In-silico PCR, primer design and padlock design for in-situ sequencing☆53Updated 3 weeks ago
- for visual evaluation of read support for structural variation☆56Updated last year
- Pipeline to evaluate and validate the accuracy of variant calling methods in genomic research☆38Updated 2 weeks ago
- Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium…☆83Updated 3 years ago
- ☆11Updated 5 months ago
- A fork of exonerate: a generic tool for sequence alignment☆71Updated 2 years ago
- Fully automated generation of UCSC assembly hubs☆35Updated last year
- SV detection tool for nanopore sequence reads☆97Updated last month
- Fast FASTQ sample demultiplexing in Rust.☆66Updated last week