edg1983 / GREEN-VARAN
Annotate non-coding regulatory vars using our GREEN-DB, prediction scores, conservation and pop AF
☆18Updated 4 months ago
Alternatives and similar repositories for GREEN-VARAN:
Users that are interested in GREEN-VARAN are comparing it to the libraries listed below
- Experimental getopt, gzip reader, FASTA/Q parser and interval queries in nim-lang☆32Updated 4 years ago
- Detect novel (and reference) STR expansions from short-read data☆63Updated last year
- seqcover allows users to view coverage for hundreds of genes and dozens of samples☆50Updated 3 years ago
- Structural variant benchmark☆17Updated 2 months ago
- Location of public benchmarking; primarily final results☆18Updated 2 years ago
- v2.x of the microassembly based somatic variant caller☆14Updated 4 months ago
- Runs a combination of tools to generate structural variant calls on short-read whole-genome sequencing data☆20Updated 3 years ago
- Generate an enhanced VCF files from ClinVar XML Full releases☆13Updated last year
- useful command-line tools written to showcase hts-nim☆49Updated 4 years ago
- ☆21Updated this week
- add true-negative SVs from a population callset to a truth-set.☆15Updated 2 years ago
- Copy Number Methods for Detection and Genome Wide Association Tests☆22Updated 2 months ago
- Sample Contamination Estimate from VCF☆19Updated 2 months ago
- horizontal pileup☆16Updated 2 years ago
- Structural variant (SV) analysis tools☆35Updated 6 months ago
- ☆17Updated 3 months ago
- ☆20Updated last year
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆27Updated 6 months ago
- Code and custom scripts relevant to gnomAD-SV (Collins*, Brand*, et al., 2020)☆36Updated 4 years ago
- BigWig manpulation tools using libBigWig and htslib☆28Updated 5 months ago
- Introme prioritises coding and noncoding splice-altering variants for clinical variant interpretation☆21Updated last week
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 8 years ago
- Variant Alert!, a framework to monitor every significant alteration in variant classification and gene-disease association between two ve…☆14Updated 3 years ago
- overlapping bases in read-pairs from a fragment indicate accuracy and reveal error-prone sites☆32Updated 3 weeks ago
- Haplotype phaser for next-generation sequencing data☆13Updated 3 years ago
- Tools to gather evidence for structural variation via breakpoint detection.☆19Updated last month
- ☆22Updated 9 months ago
- simple bioinformatics command-line (t)ools (i) (w)ished (i) (h)ad.☆44Updated last year
- ☆39Updated 4 months ago
- Deep learning-based structural variant filtering method☆38Updated last year