monarch-initiative / SquirlsLinks
Interpretable prioritization of splice variants in diagnostic next-generation sequencing
☆16Updated last year
Alternatives and similar repositories for Squirls
Users that are interested in Squirls are comparing it to the libraries listed below
Sorting:
- Call regions of homozygosity and make tentative UPD calls☆11Updated 6 months ago
- Website to analyze conflicting assertions in ClinVar☆18Updated last year
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆29Updated 10 months ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆28Updated 11 months ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- Location of public benchmarking; primarily final results☆18Updated 3 months ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 3 months ago
- Personal diploid genome creation and coordinate conversion☆26Updated 2 months ago
- CNV detection tool for targeted NGS panel data☆16Updated 3 years ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆37Updated 4 years ago
- ☆21Updated last month
- This is a pipeline for variant annotation in the diagnosis of rare genetic disorders. It relies on open source data and has instructions …☆17Updated 2 years ago
- A webtool for the clinical interpretation of CNVs in rare disease patients☆12Updated 2 years ago
- Copy Number Methods for Detection and Genome Wide Association Tests☆22Updated 7 months ago
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆21Updated 4 years ago
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆29Updated last month
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- Viola is a flexible and powerful python package designed specifically for analysis of genomic structural variant (SV) signatures.☆26Updated 10 months ago
- ☆29Updated 4 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- pathoscore evaluates variant pathogenicity tools and scores.☆21Updated 3 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- Basic UPD caller☆11Updated 3 years ago
- Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies☆18Updated last year
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago