jeremymcrae / clinical-filter
filtering trio-based genetic variants in VCFs for clinical review
☆20Updated 4 years ago
Related projects ⓘ
Alternatives and complementary repositories for clinical-filter
- Simplify snpEff annotations for interesting cases☆21Updated 5 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 3 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 4 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆29Updated last year
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated 10 months ago
- Structural Variant Prediction Viewer☆31Updated 7 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 6 years ago
- A small repo for storing the code for making the files and html for CCRs.☆22Updated 5 years ago
- Location of public benchmarking; primarily final results☆18Updated 2 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 2 years ago
- ☆21Updated 3 months ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆27Updated 4 months ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Samwell: a python package for using genomic files... well☆19Updated 2 years ago
- Prioritize structural variants based on CADD scores☆28Updated 4 years ago
- A Framework to call Structural Variants from NGS based datasets☆21Updated 6 years ago
- smCounter: a versatile UMI-aware variant caller to detect both somatic and germline SNVs and indels. Published in article "Detecting very…☆20Updated 5 years ago
- Fast, accurate and simple to use command line tool for variant detection in NGS data.☆10Updated 5 years ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 8 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆25Updated 5 months ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- Sample Contamination Estimate from VCF☆19Updated 2 weeks ago
- ☆15Updated 7 months ago
- Automated human exome/genome variants detection from FASTQ files☆22Updated 3 years ago
- Python package and routines for merging VCF files☆29Updated 3 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated 3 months ago
- program for haplotype phasing from sequence reads and related tools☆25Updated 5 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 4 years ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 5 years ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆56Updated 2 years ago