MOSAIK: A Hash-Based Algorithm for Accurate Next-Generation Sequencing Short-Read Mapping
...eletions. To support the growing interest in larger structural variant (SV) discovery, MOSAIK provides explicit support for handling known-sequence SVs, e.g. mobile element insertio...2918 days ago
2674 days ago
NGMLR: long-read mapper designed to align PacBio or Oxford Nanopore
...t reads that cannot be aligned linearly, enabling ngmlr to reliably align reads to a wide range of different structural variations including nested SVs (e.g. inversions flanked by d...2214 days ago
2166 days ago
LAMSA: fast split read alignment with long approximate matches
...ds of base-pairs). LAMSA takes takes the advantage of the rareness of SVs to implement a specifically d...rs; mean-while, it also has good ability to handle various categories of SVs. LAMSA is open source and...2194 days ago
2181 days ago
Genome U-Plot: a whole genome visualization
Genome U-Plot for producing clear and intuitive graphs that allows researchers to generate novel insights and hypotheses by visualizing SVs such as deletions, amplifications, and ch...2134 days ago
1944 days ago
Kevler: Reference-free variant discovery in large eukaryotic genomes
...sed method calls single nucleotide variants (SNVs), multinucleotide variants (MNVs), insertion/deletion variants (indels), and structural variants (SVs) simultaneously with a single...1571 days ago
truvari: Structural variant comparison tool for VCFs
Structural variant comparison tool for VCFs Given benchmark and comparsion sets of SVs, calculate the recall, precision, and f-measure. Spiral Genetics Motivation1416 days ago