rgcgithub / clammsLinks
CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.
☆30Updated 4 years ago
Alternatives and similar repositories for clamms
Users that are interested in clamms are comparing it to the libraries listed below
Sorting:
- create a gemini-compatible database from a VCF☆56Updated 4 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 5 years ago
- A method to identify structural variation from sequencing data in target regions☆32Updated 5 years ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- 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
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated 2 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated 3 months ago
- An awk-like VCF parser☆56Updated last year
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆58Updated 3 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 5 years ago
- ☆29Updated 4 years ago
- utilities for working with IGV: opening files remotely in either desktop IGV or a web viewer (igv.js), creating screenshots, etc.☆49Updated 6 years ago
- Automated human exome/genome variants detection from FASTQ files☆23Updated 4 years ago
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆37Updated 5 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆33Updated 2 years ago
- Chanjo provides a better way to analyze coverage data in clinical sequencing.☆50Updated 11 months ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆25Updated 9 years ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year
- Website to analyze conflicting assertions in ClinVar☆19Updated last year
- RUFUS k-mer based genomic variant detection☆54Updated 10 months ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 5 years ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆18Updated last year
- Structural Variant Prediction Viewer☆35Updated 8 years ago
- Generic human DNA variant annotation pipeline☆59Updated last year
- Variant caller GUI + genetic disease analysis☆22Updated 5 years ago
- Tools for analyzing 10X Genomics data☆42Updated 6 years ago
- Mapped QC analysis program☆44Updated 7 years ago
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago