friend1ws / SAVNet
detection of mutations causing splicing change
☆13Updated 2 years ago
Alternatives and similar repositories for SAVNet:
Users that are interested in SAVNet are comparing it to the libraries listed below
- ☆14Updated last year
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year
- A webtool for the clinical interpretation of CNVs in rare disease patients☆12Updated 2 years ago
- Building the constrained coding regions (CCR) model☆16Updated 6 years ago
- Simplify snpEff annotations for interesting cases☆21Updated 6 years ago
- BANDITS: Bayesian ANalysis of DIfferenTial Splicing☆17Updated last year
- MAGERI - Assemble, align and call variants for targeted genome re-sequencing with unique molecular identifiers☆21Updated 7 years ago
- DRAGEN Tumor/Normal workflow post-processing☆22Updated last year
- Exhaustive capture of biological variation in RNA-seq data through k-mer decomposition.☆15Updated 6 years ago
- A program for fast and accurate genome-guided transcripts reconstruction and quantification from RNA-seq (Supporting Pacbio single-end)☆23Updated 3 years ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated last month
- Expectation-Maximization algorithm for Allele-Specific Expression☆21Updated last year
- SQUID detects both fusion-gene and non-fusion-gene structural variations from RNA-seq data☆42Updated 2 years ago
- fast webservices based query tool for large sets of genomic features☆25Updated last week
- v2.x of the microassembly based somatic variant caller☆20Updated last week
- Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer☆21Updated 4 years ago
- ☆21Updated 3 weeks ago
- Abismal is a mapper of FASTQ bisulfite-converted short reads (between 50 and 1000 bases) to a FASTA reference genome.☆17Updated last month
- Reproducibility workflow for Gigante et al., 2018: Using long-read sequencing to detect imprinted DNA methylation☆23Updated 6 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated last month
- Personal diploid genome creation and coordinate conversion☆24Updated last week
- A tool for evaluating RNA seq mapping☆22Updated 5 years ago
- A Package For Predicting The Disruptiveness Of Single Nucleotide Polymorphisms On Transcription Factor Binding Sites.☆28Updated 8 months ago
- A tool for Read Multi-Mapper Resolution☆23Updated 8 years ago
- Relative Abundance of Transcripts: An R package for the detection of Differential Transcript isoform Usage.☆32Updated 2 years ago
- Somatic point mutation caller☆17Updated 8 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 6 years ago
- Sashimi plots for RNA-seq data using detected transcripts☆28Updated 2 weeks ago
- Pipeline to call neoantigens from intron retention events derived from RNA-Seq data.☆28Updated 4 years ago
- Using k-mers to call HLA alleles in RNA sequencing data☆22Updated 6 years ago