dnil / rhocall
Call regions of homozygosity and make tentative UPD calls
☆10Updated last month
Alternatives and similar repositories for rhocall:
Users that are interested in rhocall are comparing it to the libraries listed below
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 6 years ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆15Updated 8 months ago
- VPOT - Variant Prioritisation Ordering Tool. VPOT is a Python tool written to allow prioritisation of variants in ANNOVAR annotated VCF f…☆11Updated 3 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- ☆21Updated this week
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- A Framework to call Structural Variants from NGS based datasets☆22Updated 6 years ago
- Simplify snpEff annotations for interesting cases☆21Updated 5 years ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 5 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated this week
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 3 years ago
- Chanjo provides a better way to analyze coverage data in clinical sequencing.☆50Updated last month
- CNV detection tool for targeted NGS panel data☆16Updated 2 years ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆27Updated 6 months ago
- iAnnotateSV is a Python library and command-line software toolkit to annotate and visualize structural variants detected from Next Genera…☆16Updated 3 weeks ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆25Updated 7 months ago
- v2.x of the microassembly based somatic variant caller☆14Updated 4 months ago
- pathoscore evaluates variant pathogenicity tools and scores.☆21Updated 2 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
- Fast, accurate and simple to use command line tool for variant detection in NGS data.☆10Updated 5 years ago
- picking up low allelic-fraction, somatic variants from tumor samples☆14Updated 7 years ago
- Prioritize structural variants based on CADD scores☆28Updated 4 years ago
- Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer☆21Updated 4 years ago
- Calib clusters barcode tagged paired-end reads based on their barcode and sequence similarity.☆38Updated last year
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆24Updated 6 months ago
- program for haplotype phasing from sequence reads and related tools☆25Updated 6 years ago
- Basic UPD caller☆11Updated 3 years ago
- A set of tools to annotate VCF files with expression and readcount data☆26Updated 4 months ago
- ☆13Updated 2 months ago