揭示隐藏在重复组中的复杂性状遗传性。

IF 11.1 Q1 CELL BIOLOGY Cell genomics Pub Date : 2023-12-13 DOI:10.1016/j.xgen.2023.100461
Po-Ru Loh
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引用次数: 0

摘要

短串联重复序列(STR)在人类遗传变异中占很大比例,但它们对人类复杂表型的影响在很大程度上还不为人所知。Margoliash 等人对英国生物库中的 STR 进行了详细的全基因组关联分析和精细图谱绘制,确定了许多可能影响血液和血清性状变异的 STR。
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Uncovering complex trait heritability hidden in the repeatome.

Short tandem repeats (STRs) account for a substantial fraction of human genetic variation, but their contribution to complex human phenotypes is largely unknown. Margoliash et al. perform detailed genome-wide association analysis and fine-mapping of STRs in UK Biobank, identifying many STRs likely to influence variation in blood and serum traits.

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