genomics-dev / variantkey
Numerical Encoding for Human Genetic Variants
☆41Updated last year
Alternatives and similar repositories for variantkey:
Users that are interested in variantkey are comparing it to the libraries listed below
- BigWig manpulation tools using libBigWig and htslib☆29Updated 6 months ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year
- prioritize effects of variant annotations from VEP, SnpEff, et al.☆33Updated 2 months ago
- Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer☆21Updated 4 years ago
- Exploration of controlled loss of quality values for compressing CRAM files☆34Updated last year
- Samwell: a python package for using genomic files... well☆20Updated 2 years ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 8 years ago
- Stupid Simple Structural Variant View☆25Updated 8 years ago
- fast webservices based query tool for large sets of genomic features☆25Updated 2 years ago
- A method to identify structural variation from sequencing data in target regions☆31Updated 4 years ago
- ☆23Updated 5 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- pathoscore evaluates variant pathogenicity tools and scores.☆21Updated 2 years ago
- ☆21Updated 3 weeks ago
- SQUID detects both fusion-gene and non-fusion-gene structural variations from RNA-seq data☆42Updated 2 years ago
- v2.x of the microassembly based somatic variant caller☆14Updated last week
- ☆24Updated 4 years ago
- Calib clusters barcode tagged paired-end reads based on their barcode and sequence similarity.☆38Updated last year
- Integrated Variant Caller☆17Updated 6 years ago
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆37Updated 4 years ago
- FermiKit small variant calls for public SGDP samples☆17Updated 8 years ago
- Keep Me Around: Intron Retention Detection☆29Updated 6 years ago
- Prioritize structural variants based on CADD scores☆28Updated 4 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated last week
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago
- simple library for dealing with SAM cigar strings☆40Updated 4 years ago
- Graphite - Graph-based variant adjudication☆28Updated 4 years ago
- overlapping bases in read-pairs from a fragment indicate accuracy and reveal error-prone sites☆31Updated last week