Results for "Breakpoint"
Bookmarks
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...1087 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....2724 days ago
- ...ng and interpreting their effects challenging. The Rearrangement Overview page describes the one or more breakpoints which make up a structural variant. A breakpoint is defined as a region or poi...
2764 days ago
- ...s and identify genes that appear non-randomly affected by chromosomal breakpoints across (large) series of tum...lied to obtain CNA profiles. Next, a tailored annotation approach for breakpoint-to-gene mapping is implemente...
2145 days ago
- ...al set of alignments that cover a query using a biologically relevant breakpoint penalty. YAHA can also report...ings per defined segment of the query. We show that YAHA detects more breakpoints in less time than BWA-SW acr...
2653 days ago
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...2467 days ago
- ...e genome could lead to the loss information. Unlike the current methods which make use the reference genome, we developed a method to detect the breakpoint reads directly from observing...
2349 days ago
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...2241 days ago
- Breakpointer is a fast tool for locating sequence breakpoints from the alignment of single end reads (SE) produced by next generation sequencing (NGS). It adopts a heuristic method in searching f...
2145 days ago
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...26 days ago
