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Showing 1–3 of 3 results
Advanced filters: Author: Sharona Shleizer-Burko Clear advanced filters

  • Variable number tandem repeats (VNTRs) are implicated in human diseases yet have been difficult to analyse computationally. Here, the authors describe a neural network method, adVNTR-NN, that allows rapid and accurate genotyping of VNTRs from large whole genome sequencing datasets.

    • Mehrdad Bakhtiari
    • Jonghun Park
    • Vineet Bafna
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-12

  • A bioinformatics pipeline to identify tandem repeat mutations is developed and used to characterize precise changes in repeat copy number associated with autism spectrum disorder.

    • Ileena Mitra
    • Bonnie Huang
    • Melissa Gymrek
    Research
    Nature
    Volume: 589, P: 246-250

  • Analysis of whole-genome sequencing and expression data for 17 tissues identifies short tandem repeats whose repeat number is associated with gene expression (eSTRs). Specific eSTRs are implicated in different complex traits through colocalization analysis with known genome-wide association study signals.

    • Stephanie Feupe Fotsing
    • Jonathan Margoliash
    • Melissa Gymrek
    Research
    Nature Genetics
    Volume: 51, P: 1652-1659