Validate SV with Split-Reads
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Updated
Jun 26, 2017 - C++
Validate SV with Split-Reads
Validate SVs with CIGAR Strings
A benchmarking tool for structural variation (SV) detection tools
Studies structural variant callers on large simulated populations sequenced with PacBio CCS
Linked-reads based structural variant caller with barcode indexing
Hybrid approach for detection of Insertions and Deletions from NGS data
Identify split reads in given chromosomal regions
Discovery and Genotyping of Novel Sequence Insertions in Many Sequenced Individuals
Linear-time, low-memory construction of variation graphs
Structural variant VCF annotation, duplicate removal and comparison
Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA
Method to optimally select samples for validation and resequencing
Identification of segmental duplications in the genome
Swipe your Structural Variants called on long (ONT/PacBio) reads with short exact (Illumina) reads.
Population-wide Deletion Calling
SQUID detects both fusion-gene and non-fusion-gene structural variations from RNA-seq data
The Modular Aligner and The Modular SV Caller
A method for variant graph genotyping based on exact alignment of k-mers
Graph realignment tools for structural variants
Fast and accurate gene fusion detection from RNA-Seq data
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