brentp / geneimpacts
prioritize effects of variant annotations from VEP, SnpEff, et al.
☆34Updated 4 months ago
Alternatives and similar repositories for geneimpacts:
Users that are interested in geneimpacts are comparing it to the libraries listed below
- Chanjo provides a better way to analyze coverage data in clinical sequencing.☆50Updated 4 months ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- Stupid Simple Structural Variant View☆25Updated 8 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- BigWig manpulation tools using libBigWig and htslib☆29Updated 8 months ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 9 years ago
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated 2 months ago
- Making Snakemake workflows into full-fledged command line tools since 1999.☆51Updated 7 years ago
- Wrapper for RTG's vcfeval; DEPRECATED!☆21Updated 9 years ago
- pathoscore evaluates variant pathogenicity tools and scores.☆21Updated 3 years ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 6 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- A small repo for storing the code for making the files and html for CCRs.☆22Updated 5 years ago
- Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer☆21Updated 4 years ago
- vcf file manipulation☆21Updated 9 years ago
- ☆37Updated 4 years ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year
- Calib clusters barcode tagged paired-end reads based on their barcode and sequence similarity.☆38Updated last year
- Samwell: a python package for using genomic files... well☆20Updated 2 years ago
- A method to identify structural variation from sequencing data in target regions☆31Updated 4 years ago
- sort genomic data☆35Updated 4 years ago
- Numerical Encoding for Human Genetic Variants☆41Updated last year
- program for haplotype phasing from sequence reads and related tools☆25Updated 6 years ago
- SMBL - SnakeMake Bioinformatics Library. Automatic installation of bioinformatics software in your SnakeMake pipelines.☆23Updated 7 years ago
- Vim syntax highlighting for WDL☆20Updated 3 years ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- ☆16Updated 8 years ago