SMD-Bioinformatics-Lund / gensLinks
☆14Updated this week
Alternatives and similar repositories for gens
Users that are interested in gens are comparing it to the libraries listed below
Sorting:
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆32Updated last week
- ☆39Updated last year
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- ☆41Updated 9 months ago
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆47Updated this week
- TIDDIT - structural variant calling☆73Updated 2 months ago
- Structural Variant Index☆74Updated 6 months ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated 2 years ago
- Thousand Variant Callers Project Repository☆73Updated 5 years ago
- RetroSeq is a bioinformatics tool that searches for mobile element insertions from aligned reads in a BAM file and a library of reference…☆66Updated 2 years ago
- Basic UPD caller☆11Updated 3 years ago
- An analysis pipeline for long-reads from both PacBio and Oxford Nanopore Technologies (ONT), written in Nextflow.☆32Updated this week
- Variant Interpretation Pipeline☆39Updated this week
- Copy number estimation and variant calling for duplicated genes using WGS.☆27Updated last month
- Structural variant VCF annotation, duplicate removal and comparison☆33Updated 4 months ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 2 years ago
- Microsatellite instability (MSI) detection for cfDNA samples.☆19Updated 4 years ago
- Pipeline for structural variant image curation and analysis.☆48Updated 3 years ago
- a tool for predicting mitochondrial DNA deletions using soft-clipping☆22Updated 3 years ago
- Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies☆18Updated 2 years ago
- Create "haplotype maps" of variants in order to use with Picardtools Crosscheck_Files utility, which allows for robust genotyping of func…☆28Updated last year
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆29Updated 11 months ago
- A method to identify structural variation from sequencing data in target regions☆32Updated 4 years ago
- Filtering and profiling of next-generational sequencing data using region-specific rules☆77Updated last year
- Linkage disequlibrium-informed PGT-A (LD-PGTA). A package for detecting genotypic signatures of aneuploidy from extremely low-coverage se…☆17Updated 2 years ago
- ☆35Updated 4 years ago
- Mutation Identification Pipeline. Read the latest documentation:☆44Updated last year
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆47Updated 5 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 5 years ago
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆70Updated 3 weeks ago