jeremymcrae / clinical-filterLinks
filtering trio-based genetic variants in VCFs for clinical review
☆21Updated 4 years ago
Alternatives and similar repositories for clinical-filter
Users that are interested in clinical-filter are comparing it to the libraries listed below
Sorting:
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- ☆29Updated 4 years ago
- 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…☆23Updated 5 years ago
- create a gemini-compatible database from a VCF☆56Updated 4 years ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year
- Structural Variation breakpoint discovery via adaptive learning☆15Updated 2 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆30Updated last week
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- A method to identify structural variation from sequencing data in target regions☆32Updated 4 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 5 years ago
- Structural Variant Prediction Viewer☆35Updated 8 years ago
- A small repo for storing the code for making the files and html for CCRs.☆22Updated 5 years ago
- pathoscore evaluates variant pathogenicity tools and scores.☆21Updated 3 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- ☆35Updated 4 years ago
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆38Updated 5 years ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆18Updated last year
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- Location of public benchmarking; primarily final results☆18Updated 5 months ago
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated 2 years ago
- Method for detecting STR expansions from short-read sequencing data☆63Updated 3 years ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 6 years ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- Website to analyze conflicting assertions in ClinVar☆18Updated last year
- CNV detection tool for targeted NGS panel data☆16Updated 3 years ago
- (WIP) best-practices workflow for rare disease☆60Updated last year
- Sample Contamination Estimate from VCF☆20Updated 9 months ago