Clinical-Genomics / loqusdbLinks
A simple observation count database
☆11Updated 3 months ago
Alternatives and similar repositories for loqusdb
Users that are interested in loqusdb are comparing it to the libraries listed below
Sorting:
- Call regions of homozygosity and make tentative UPD calls☆12Updated 2 months ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated last month
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆37Updated 5 years ago
- Basic UPD caller☆11Updated 4 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
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- Concordance and contamination estimator for tumor–normal pairs☆58Updated 10 months ago
- ☆16Updated last week
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 6 years ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆58Updated 3 years ago
- (WIP) best-practices workflow for rare disease☆62Updated last year
- An awk-like VCF parser☆56Updated last year
- novoBreak: local assembly for breakpoint detection in cancer genomes☆25Updated 7 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 5 years ago
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated 2 years ago
- Generic human DNA variant annotation pipeline☆58Updated last year
- ☆46Updated 5 years ago
- Thousand Variant Callers Project Repository☆73Updated 5 years ago
- Structural Variant Prediction Viewer☆35Updated 8 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- Mapped QC analysis program☆44Updated 7 years ago
- ☆29Updated 4 years ago
- A read extraction and realignment tool for next generation sequencing data☆103Updated 2 years ago
- Detection and Visualization of Exon-Level Copy Number Variants in Targeted Next Generation Sequencing Data☆17Updated 3 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- smCounter: a versatile UMI-aware variant caller to detect both somatic and germline SNVs and indels. Published in article "Detecting very…☆20Updated 6 years ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆18Updated last year
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 5 years ago
- Human mitochondrial variants annotation using HmtVar.☆18Updated last year
- chimeraviz is an R package that automates the creation of chimeric RNA visualizations.☆38Updated last year