quinlan-lab / STRling
Detect novel (and reference) STR expansions from short-read data
☆62Updated last year
Related projects ⓘ
Alternatives and complementary repositories for STRling
- Structural Variant Index☆70Updated this week
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆56Updated 2 years ago
- seqcover allows users to view coverage for hundreds of genes and dozens of samples☆50Updated 3 years ago
- 🏔 coverage extraction from BAM/CRAM files, supporting targets 📊☆60Updated 2 years ago
- ☆39Updated 2 months ago
- heuristics to merge structural variant calls in VCF format.☆35Updated 8 years ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆46Updated 4 years ago
- ☆79Updated 6 months ago
- Structural variant benchmark of challenging medically relevant genes☆17Updated last year
- Miscellaneous scripts for applications of PacBio systems☆25Updated 2 years ago
- Pipeline for structural variant image curation and analysis.☆48Updated 2 years ago
- SV genotyping with long reads☆40Updated last year
- ☆46Updated 5 months ago
- RetroSeq is a bioinformatics tool that searches for mobile element insertions from aligned reads in a BAM file and a library of reference…☆65Updated 2 years ago
- Structural variant (SV) analysis tools☆36Updated 4 months ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆30Updated this week
- Structural variant caller☆54Updated 2 years ago
- Code for phasing SVs with SNPs☆52Updated 4 years ago
- ☆36Updated 7 months ago
- Toolkit for calling structural variants using short or long reads☆99Updated this week
- don't get DUP'ed or DEL'ed by your putative SVs.☆101Updated 3 years ago
- Public Benchmark of Long-Read Structural Variant Caller on PacBio CCS HG002 Data☆48Updated 3 years ago
- Population-wide Deletion Calling☆35Updated 2 months ago
- MarginPolish: Graph based assembly polishing☆45Updated 4 years ago
- Variant annotation and merging pipeline☆29Updated 3 weeks ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆33Updated 4 months ago
- ☆22Updated 3 years ago
- A snakemake pipeline for SV analysis from nanopore genome sequencing☆51Updated 4 years ago
- WDL workflows for variant calling and assembly using ONT☆28Updated this week
- UCSC Nanopore☆43Updated 5 years ago