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Showing 1–2 of 2 results
Advanced filters: Author: "M Lathrop" Clear advanced filters

  • Multifactorial disorders have grabbed the limelight in recent years, at the expense of research on monogenic traits. This shift in emphasis might not be fully justified, given the insight that seemingly 'simple' disorders can bring to genome function and complex disease aetiology.

    • Stylianos E. Antonarakis
    • Jacques S. Beckmann
    Reviews
    Nature Reviews Genetics
    Volume: 7, P: 277-282

  • Copy number variation constitutes a major source of inter-individual genetic variation that could explain variable disease penetrance and variation in the phenotypic expression of aneuploidies, and could be an important factor in the aetiology of complex traits. Therefore, systematic exploration of both single nucleotide and copy number variation will be key to identifying the genomic contributors to polygenic traits and diseases.

    • Jacques S. Beckmann
    • Xavier Estivill
    • Stylianos E. Antonarakis
    Reviews
    Nature Reviews Genetics
    Volume: 8, P: 639-646