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比较进化在人类疾病遗传学中的应用。

Applications of comparative evolution to human disease genetics.

作者信息

McWhite Claire D, Liebeskind Benjamin J, Marcotte Edward M

机构信息

Center for Systems and Synthetic Biology, Institute for Cellular and Molecular Biology, & Department of Molecular Biosciences, University of Texas at Austin, Austin, TX 78712, United States.

Center for Systems and Synthetic Biology, Institute for Cellular and Molecular Biology, & Department of Molecular Biosciences, University of Texas at Austin, Austin, TX 78712, United States.

出版信息

Curr Opin Genet Dev. 2015 Dec;35:16-24. doi: 10.1016/j.gde.2015.08.004. Epub 2015 Sep 4.

DOI:10.1016/j.gde.2015.08.004
PMID:26338499
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4947381/
Abstract

Direct comparison of human diseases with model phenotypes allows exploration of key areas of human biology which are often inaccessible for practical or ethical reasons. We review recent developments in comparative evolutionary approaches for finding models for genetic disease, including high-throughput generation of gene/phenotype relationship data, the linking of orthologous genes and phenotypes across species, and statistical methods for linking human diseases to model phenotypes.

摘要

将人类疾病与模型表型进行直接比较,有助于探索人类生物学的关键领域,这些领域往往因实际或伦理原因而难以触及。我们回顾了在寻找遗传疾病模型的比较进化方法方面的最新进展,包括高通量生成基因/表型关系数据、跨物种直系同源基因和表型的关联,以及将人类疾病与模型表型相联系的统计方法。

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Nucleic Acids Res. 2015 Jul 1;43(W1):W128-33. doi: 10.1093/nar/gkv486. Epub 2015 May 12.
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Widespread macromolecular interaction perturbations in human genetic disorders.人类遗传疾病中广泛存在的大分子相互作用扰动。
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Large-scale whole-genome sequencing of the Icelandic population.
Microb Cell. 2019 Jul 15;6(8):335-355. doi: 10.15698/mic2019.08.686.
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Gearing up to handle the mosaic nature of life in the quest for orthologs.在寻找直系同源基因的过程中做好准备以应对生命的镶嵌性。
Bioinformatics. 2018 Jan 15;34(2):323-329. doi: 10.1093/bioinformatics/btx542.
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Multifactorial theory applied to the neurotoxicity of paraquat and paraquat-induced mechanisms of developing Parkinson's disease.多因素理论应用于百草枯的神经毒性及百草枯诱发帕金森病的发病机制。
Lab Invest. 2016 May;96(5):496-507. doi: 10.1038/labinvest.2015.161. Epub 2016 Feb 1.
大规模全基因组测序的冰岛人口。
Nat Genet. 2015 May;47(5):435-44. doi: 10.1038/ng.3247. Epub 2015 Mar 25.
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Rock, paper, scissors: harnessing complementarity in ortholog detection methods improves comparative genomic inference.石头、剪刀、布:利用直系同源物检测方法中的互补性可改善比较基因组推断。
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Systematic Discovery of Human Gene Function and Principles of Modular Organization through Phylogenetic Profiling.通过系统发育谱法对人类基因功能和模块化组织原理进行系统性发现。
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Convergence of ion channel genome content in early animal evolution.早期动物进化中离子通道基因组内容的趋同。
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