Titlebook: Copy Number Variants; Methods and Protocol Derek M. Bickhart Book 2018 Springer Science+Business Media, LLC, part of Springer Nature 2018 P

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Detecting Small Inversions Using SRinversion,other variations, such as point mutations, insertions, and deletions, which can be identified in high sensitivities and specificities based on NGS reads, most of inversions, especially those shorter than 1 kb, remain difficult to detect. Here we introduce a new framework, SRinversion, which was deve

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Structural Variant Breakpoint Detection with novoBreak,ancer genomics era, detecting structural variations from short sequencing data is still challenging. We developed a novel algorithm, novoBreak (Chong et al. Nat Methods 14:65–67, 2017), which achieved the highest balanced accuracy (mean of sensitivity and precision) in the ICGC-TCGA DREAM 8.5 Somati

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A Randomized Iterative Approach for SV Discovery with SVelter,ss of genetic variation has had on human health and disease. In spite of the recent advances in sequencing technology and discovery methodology, there are still considerable amount of variants in the genome that are partially or completely misinterpreted. The computational tool introduced in this ch

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Analysis of Population-Genetic Properties of Copy Number Variations, insertions, deletions and duplications of genomic sequences, is also an informative type of genetic variation. CNVs have been shown to be both common in mammals and important for understanding the relationship between genotype and phenotype. Moreover, population-specific CNVs are candidate regions

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Validation of Genomic Structural Variants Through Long Sequencing Technologies,a dearth of approaches to evaluate their results. This is significant, as the accurate identification of SVs is still an outstanding problem whereby no single algorithm has been shown to be able to achieve high sensitivity and specificity across different classes of SVs. The method introduced in thi