pasted / clinical_variant_databaseLinks
Rails application for storing and parsing clinical exome VCF files. Gene annotations can be retrieved via Biomart integration from Ensembl dataset. Originally developed as part of a Masters in Bioinformatics project @ University of Exeter
☆10Updated 8 years ago
Alternatives and similar repositories for clinical_variant_database
Users that are interested in clinical_variant_database are comparing it to the libraries listed below
Sorting:
- Variant Annotation, Segregation and Exclusion for family or cohort based rare-disease sequencing studies.☆12Updated 3 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- These scripts reformat a VCF into a SQLite database, with R☆15Updated 4 years ago
- PopSTR - A Population based microsatellite genotyper☆33Updated last year
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 6 years ago
- Structural Variation breakpoint discovery via adaptive learning☆16Updated 2 years ago
- extract SV signal from a BAM☆11Updated 7 years ago
- A utility for merging and genotyping Illumina-style GVCFs.☆33Updated 6 years ago
- Reference-free variant discovery in large eukaryotic genomes☆41Updated 4 years ago
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆21Updated 5 years ago
- Call regions of homozygosity and make tentative UPD calls☆12Updated 3 months ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated this week
- A fast and flexible program to annotate/interpret genetic variants in VCF/BCF file☆19Updated 4 years ago
- CADD-SV – a framework to score the effect of structural variants☆15Updated 7 months ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated 2 months ago
- TREDPARSE: HLI Short Tandem Repeat (STR) caller☆25Updated 5 years ago
- CAVA (Clinical Annotation of VAriants)☆14Updated 7 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- ☆11Updated 2 years ago
- Prioritize structural variants based on CADD scores☆29Updated 5 years ago
- create a gemini-compatible database from a VCF☆56Updated 4 years ago
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆30Updated 4 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 5 years ago
- Wrapper for RTG's vcfeval; DEPRECATED!☆21Updated 9 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
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆25Updated 9 years ago
- VCF files of SVs using long-read sequencing (LRS).☆22Updated 3 years ago
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 5 years ago