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Relatedness in the post-genomic era: is it still useful?

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NATURE REVIEWS GENETICS
卷 16, 期 1, 页码 33-44

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NATURE PORTFOLIO
DOI: 10.1038/nrg3821

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  1. UK Medical Research Council [G0901388]
  2. National Institute for Health Research University College London Hospitals Biomedical Research Centre
  3. MRC [MR/L012561/1, G0901388] Funding Source: UKRI
  4. Medical Research Council [G0901388, MR/L012561/1] Funding Source: researchfish

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Relatedness is a fundamental concept in genetics but is surprisingly hard to define in a rigorous yet useful way. Traditional relatedness coefficients specify expected genome sharing between individuals in pedigrees, but actual genome sharing can differ considerably from these expected values, which in any case vary according to the pedigree that happens to be available. Nowadays, we can measure genome sharing directly from genome-wide single-nucleotide polymorphism (SNP) data; however, there are many such measures in current use, and we lack good criteria for choosing among them. Here, we review SNP-based measures of relatedness and criteria for comparing them. We discuss how useful pedigree-based concepts remain today and highlight opportunities for further advances in quantitative genetics, with a focus on heritability estimation and phenotype prediction.

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