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Showing 1–4 of 4 results
Advanced filters: Author: Ramesh Rajaby Clear advanced filters

  • Structural variations (SV) contribute to inter-individual variability. Here, the authors describe a first-generation multi-ancestry Asian SV catalogue containing 73,035 SVs from 8392 Singaporeans to provide insights into Asian SV diversity.

    • Joanna Hui Juan Tan
    • Zhihui Li
    • Nicolas Bertin
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-15

  • Copy number variants (CNVs) are the most common structural variants in human genomes however detecting them using short read sequencing is challenging. Here the authors introduce a method that uses a novel type of evidence to improve CNV detection from short reads, generating more complete CNV catalogues for both human and non-human sequencing data.

    • Ramesh Rajaby
    • Wing-Kin Sung
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-16

  • Current methods for detecting insertions from short read sequencing data generally have low sensitivity. Here, the authors develop a new tool that runs quickly and detects significantly more true positive insertions compared to any combination of existing methods.

    • Ramesh Rajaby
    • Dong-Xu Liu
    • Wing-Kin Sung
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-13