TheJacksonLaboratory / LIRICALLinks
LIkelihood Ratio Interpretation of Clinical AbnormaLities
☆29Updated 2 months ago
Alternatives and similar repositories for LIRICAL
Users that are interested in LIRICAL are comparing it to the libraries listed below
Sorting:
- A phenotype-based tool for variant prioritization in WES and WGS data☆38Updated 2 years ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆18Updated last year
- Website to analyze conflicting assertions in ClinVar☆18Updated last year
- Call regions of homozygosity and make tentative UPD calls☆11Updated 2 months ago
- Mutation Identification Pipeline. Read the latest documentation:☆45Updated last year
- Annotation of VCF variants with functional impact and from databases (executable+library)☆61Updated last week
- VarFish: comprehensive DNA variant analysis for diagnostics and research☆48Updated last week
- Generic human DNA variant annotation pipeline☆58Updated last year
- Pedigree drawing with ease☆24Updated 3 years ago
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆49Updated this week
- ☆25Updated 8 months ago
- PathOS is a clinical application for filtering, analysing and reporting on NGS variants☆29Updated 4 years ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- Genomes on the Cloud, Mapping & Variant Calling Pipelines☆35Updated 8 years ago
- ☆69Updated 3 years ago
- Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes☆64Updated 3 weeks ago
- Thousand Variant Callers Project Repository☆74Updated 5 years ago
- phenotype-based prioritization of candidate genes for human diseases☆65Updated 2 years ago
- An information model for representing variant annotations.☆21Updated 2 weeks ago
- ☆29Updated 4 years ago
- ☆23Updated 6 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- (WIP) best-practices workflow for rare disease☆60Updated last year
- ☆32Updated 7 months ago
- Phenotype driven gene prioritization for HPO☆47Updated 4 years ago
- TIDDIT - structural variant calling☆76Updated 4 months ago
- Concordance and contamination estimator for tumor–normal pairs☆60Updated 10 months ago
- gnomAD browser pre-ASHG 2018☆33Updated 4 years ago
- Genomic VCF to tab-separated values☆47Updated 2 years ago
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆82Updated last week