Combination of different types of anomalous read-pair alignments together with read depth (RD) pattern to define four different categories of structural variants (SVs).Georgia, EscaramisCristian, TornadorLaia, BassaganyasRaquel, R...
Here, we present a method for detecting such variants from short-read sequence data using the orientation and distance of paired-end, and split-read mappings in addition to using read-depth as a filtering agent. We test our data using simulated SVs and find that our method is 27.5 times ...
Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res. 19, 1586–1592. https://doi.org/10.1101/gr092981109 (2009). Article CAS PubMed PubMed Central Google Scholar Rausch, T. et al. DELLY: Structural variant discovery by integrated paired-end ...
pair-end reads (30.7× coverage). Read mapping to the assembly was done using Minimap2 (v2.16)41with the short read option (-ax sr). Pilon (v1.23-0)42was then applied to correct for sequencing errors including SNPs and small indels (--fix bases) on sites with a minimum depth of 10...
More About This Book Backfield Boys John Feinstein Jason Roddin and Tom Jefferson are a perfect pair- best friends and football players. Jason is a blazing-fast wide-receiver, while his best friend Tom has all the skills a standout quarterback needs. After summer football camp at an elite ...
It used read-pair split-read and read depth signals to detect variations [16], however when applied to detecting inversions from single-end long-read data, only split-read signals will be informative. Sniffles is designed for detecting deletions, duplications, insertions, inversions, translocations ...
Comprehensive discovery of structural variation (SV) in human genomes from DNA sequencing requires the integration of multiple alignment signals including read-pair, split-read and read-depth. However, owing to inherent technical challen... Layer, Ryan M,Hall, Ira M,Quinlan, Aaron R 被引量: 0...
A video camera that generates an interlaced video signal by mixed-line-pair readout from a solid-state image sensor also operates in a still-picture mode, in which even lines and odd lines of sensor elements are read out separately, without being mixed. The image information read from the ...
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RetroSeq is a two phase process, the first being the read pair discovery phase where discorandant mate pairs are detected and assigned to a TE class (Alu, SINE, LINE, etc.) by using either the annotated TE elements in the reference and/or aligned with Exonerate to the supplied library ...