InfoGenomeR: Integrative reconstruction of cancer genome karyotypes
...eR is the Integrative Framework for Genome Reconstruction that uses a breakpoint graph to model the connectivi...lele-specific CNAs, and haplotype information to identify the optimal breakpoint graph representing cancer gen...1094 days ago
Comparative genomics educational material and papers bookmarks
...ary Information) identified homologous synteny blocks (HSBs). Using porcine HSBs and stringent filtering criteria, 192 pig-specific evolutionary breakpoint regions (EBRs) were located....2731 days ago
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MGRA: Breakpoint graphs and ancestral genome reconstructions
MGRA (Multiple Genome Rearrangements and Ancestors) is a tool for reconstruction of ancestor genomes and evolutionary history of extant genomes. It takes as an input a s...2474 days ago
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Reference-free prediction of rearrangement breakpoint reads
...taset with a sequencing depth of 100×, it finds ∼88% of the breakpoints correctly with no false-posi...-positive reads. To our knowledge, this is the first method to detect breakpoint reads without using a referen...2248 days ago
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Severus: a somatic structural variation (SV) caller for long reads
...multiple tumor samples, and produces accurate and complete somatic and germline calls. Severus takes advantage of long-read phasing and uses the breakpoint graph framework to model comp...33 days ago