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Search results for genome structural variation

structural-variation x

12 search results found

Sniffles ⭐ 479

Structural variation caller using third generation sequencing

NGMLR is a long-read mapper designed to align PacBio or Oxford Nanopore (standard and ultra-long) to a reference genome with a focus on reads that span structural variations

New Genome Browser (NGB) - a Web - based NGS data viewer with unique Structural Variations (SVs) visualization capabilities, high performance, scalability, and cloud data support

Pipeline Structural Variation ⭐ 87

Pipeline for calling structural variations in whole genomes sequencing Oxford Nanopore data

Tools for processing and analyzing structural variants.

simuG: a general-purpose genome simulator

Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data

Mumandco ⭐ 49

MUM&Co is a simple bash script that uses Whole Genome Alignment information provided by MUMmer (only v4) to detect Structural Variation

Agfusion ⭐ 46

Python package to annotate and visualize gene fusions.

Population-wide Deletion Calling

Identification of segmental duplications in the genome

Aceseqworkflow ⭐ 22

Allele-specific copy number estimation with whole genome sequencing

Svcollector ⭐ 17

Method to optimally select samples for validation and resequencing

Allele-Specific Quantification of Structural Variations in Cancer Genomes

laSV is a software package that employs local assembly to detect structural variations from whole-genome high-throughput sequencing datasets

Simulation toolbox for structural variations.

A scalable variant calling and benchmarking framework supporting both short and long reads.

Location of structural errors in a genome assembly and structural variations between a pair of genomes

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