rhshah / iCallSVLinks
A Framework to call Structural Variants from NGS based datasets
☆22Updated 7 years ago
Alternatives and similar repositories for iCallSV
Users that are interested in iCallSV are comparing it to the libraries listed below
Sorting:
- A method to identify structural variation from sequencing data in target regions☆32Updated 4 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
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆21Updated 4 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 7 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆28Updated last year
- a Shiny/R application to view and annotate copy number variations☆28Updated 2 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆29Updated 11 months ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 9 years ago
- BigWig manpulation tools using libBigWig and htslib☆29Updated 10 months ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 2 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 5 years ago
- ☆24Updated 10 months ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 3 months ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- The integrated pipeline for Indel detection☆17Updated 7 years ago
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆37Updated 4 years ago
- simple library for dealing with SAM cigar strings☆41Updated 4 years ago
- QC3, a quality control tool designed for DNA sequencing data for raw data, alignment, and variant calling.☆32Updated 9 years ago
- Third-generation fusion gene detection☆14Updated 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
- Structural variant VCF annotation, duplicate removal and comparison☆33Updated 4 months ago
- Prioritize structural variants based on CADD scores☆29Updated 5 years ago
- This repository contains information about ongoing analysis performed by GIAB☆14Updated 5 years ago
- Filtering and profiling of next-generational sequencing data using region-specific rules☆25Updated 9 years ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 6 years ago