ImperialCardioGenetics / frequencyFilter
Allele frequency filtering for Mendelian variant discovery
☆17Updated 8 years ago
Related projects ⓘ
Alternatives and complementary repositories for frequencyFilter
- Allele frequency filter app☆14Updated 2 years ago
- Interactive table from gemini output☆10Updated 5 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated 2 months ago
- Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer☆21Updated 3 years ago
- ☆11Updated last year
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆27Updated 4 months ago
- Divine: Prioritizing Genes for Rare Mendelian Disease in Whole Exome Sequencing Data☆12Updated 5 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 6 years ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- iAnnotateSV is a Python library and command-line software toolkit to annotate and visualize structural variants detected from Next Genera…☆16Updated 2 months ago
- Clinical Variant Annotation Pipeline☆10Updated 4 years ago
- Fast, accurate and simple to use command line tool for variant detection in NGS data.☆10Updated 5 years ago
- A small repo for storing the code for making the files and html for CCRs.☆22Updated 5 years ago
- This repository contains the code to run the ASCETS arm-level copy number events caller for targeted sequencing data. ASCETS produces arm…☆14Updated 9 months ago
- filtering trio-based genetic variants in VCFs for clinical review☆20Updated 4 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 4 years ago
- extract SV signal from a BAM☆11Updated 6 years ago
- Tissue-specific variant annotation☆10Updated 5 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 6 years ago
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆20Updated 4 years ago
- The original version of MGA has been archived - please see https://github.com/crukci-bioinformatics/mga2 instead.☆25Updated 3 years ago
- ALOFT, the Annotation Of Loss-of-Function Transcripts, provides extensive functional annotations to loss-of-function variants in the hum…☆19Updated 5 years ago
- R package specialized in HLA typing clustering and visualization based on specific similarity metrics☆12Updated 4 years ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 8 years ago
- DRAGEN Tumor/Normal workflow post-processing☆22Updated last year
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆16Updated 2 years ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated 10 months ago
- dv-trio provides a pipeline to call variants for a trio (father-mother-child) using DeepVariants [1]. Genomic Variant Calling Files (gVCF…☆9Updated 3 years ago
- MrMosaic (Genomic Mosaic Structural Variant Caller)☆15Updated 7 years ago