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Discovery and characterization of Alu repeat sequences via precise local read assembly

bioRxiv

Feb 6, 2015

Julia Halo WildschutteJeffrey M. Kidd

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Abstract

Alu insertions have contributed to >11% of the human genome and ~30-35 Alu subfamilies remain actively mobile, yet the characterization of polymorphic Alu insertions from short-read data remains a challenge. We build on existing computational methods to combine Alu detection and de novo...read more

Mentioned in this Paper

Gene Polymorphism
Detection
Whole Genome Sequencing
LINE-1 Elements
Genome
Protein Truncation
RNA
Site
Molecular Assembly/Self Assembly
Protein Truncation Abnormality
11
1
14
Paper Details
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  • Discovery and characterization of Alu repeat sequences via precise local read assembly

    bioRxiv

    Feb 6, 2015

    Julia Halo WildschutteJeffrey M. Kidd

    PMID: 990014977

    DOI: 10.1101/014977

    Abstract

    Alu insertions have contributed to >11% of the human genome and ~30-35 Alu subfamilies remain actively mobile, yet the characterization of polymorphic Alu insertions from short-read data remains a challenge. We build on existing computational methods to combine Alu detection and de novo...read more

    Mentioned in this Paper

    Gene Polymorphism
    Detection
    Whole Genome Sequencing
    LINE-1 Elements
    Genome
    11
    1
    14
    Paper Details
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