Context-Aware Prediction of Pathogenicity of Missense Mutations Involved in Human Disease-猫眼课题宝

人类疾病中错义突变致病性的上下文感知预测

DOI：

发表时间：

2017

期刊：

bioRxiv

影响因子：

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中科院分区：

文献类型：

作者：

Christoph Feinauer;M. Weigt

氨基酸取代涉及广泛的人类疾病，其中许多是致命的。区分这些突变和对人类健康没有显著影响的多态性是理解这些疾病病因的必要步骤。计算方法可以用来选择一个更大的集内的有趣的突变，以证实实验结果，并阐明有害影响的原因。在这项工作中，我们表明，考虑到突变出现的序列背景，可以提高这种方法的预测和解释能力。我们提出了一种基于同源蛋白直接偶联分析的无监督方法。我们展示了它的能力，量化突变的方法没有上下文依赖失败。我们强调的情况下，上下文依赖是可解释为功能或结构约束，并表明我们的简单和无监督的方法具有类似的国家的最先进的方法，包括监督的准确性。

Amino-acid substitutions are implicated in a wide range of human diseases, many of which are lethal. Distinguishing such mutations from polymorphisms without significant effect on human health is a necessary step in understanding the etiology of such diseases. Computational methods can be used to select interesting mutations within a larger set, to corroborate experimental findings and to elucidate the cause of the deleterious effect. In this work, we show that taking into account the sequence context in which the mutation appears allows to improve the predictive and explanatory power of such methods. We present an unsupervised approach based on the direct-coupling analysis of homologous proteins. We show its capability to quantify mutations where methods without context dependence fail. We highlight cases where the context dependence is interpretable as functional or structural constraints and show that our simple and unsupervised method has an accuracy similar to state-of-the-art methods, including supervised ones.

Molecular mechanism for regulation of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase complex by phosphorylation.

DOI： 10.1016/j.str.2004.09.013

发表时间： 2004-12

期刊：

Structure

影响因子： 5.7

作者：

R. Wynn;Masato Kato;M. Machius;J. Chuang;Jun Li;D. Tomchick;D. Chuang

通讯作者：

R. Wynn;Masato Kato;M. Machius;J. Chuang;Jun Li;D. Tomchick;D. Chuang

Nature Genetics Advance Online Publication Meta-analysis of 375,000 Individuals Identifies 38 Susceptibility Loci for Migraine

DOI： --

发表时间： --

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作者：

P. Gormley;V. Anttila;V. Anttila;B. Winsvold;B. Winsvold;P. Palta;T. Esko;T. Esko;T. Esko;T. Pers;Kai-How Farh;Kai-How Farh;Kai-How Farh;E. Cuenca-León;M. Muona;N. Furlotte;Tobias Kurth;Tobias Kurth;A. Ingason;George Mcmahon;L. Ligthart;G. Terwindt;M. Kallela;T. Freilinger;T. Freilinger;C. Ran;S. Gordon;A. Stam;S. Steinberg;G. Borck;M. Koiranen;L. Quaye;H. Adams;T. Lehtimäki;Antti-Pekka Sarin;J. Wedenoja;D. Hinds;Julie E. Buring;Julie E. Buring;M. Schürks;P. Ridker;P. Ridker;M. Hrafnsdottir;H. Stefánsson;S. Ring;J. Hottenga;B. Penninx;M. Färkkilä;V. Artto;M. Kaunisto;Salli Vepsäläinen;R. Malik;A. Heath;P. Madden;N. Martin;G. Montgomery;M. Kurki;M. Kals;R. Mägi;K. Pärn;E. Hämäläinen;Hailiang Huang;Hailiang Huang;Andrea Byrnes;Andrea Byrnes;L. Franke;Jie Huang;E. Stergiakouli;Phil H. Lee;Phil H. Lee;C. Sandor;C. Webber;Zameel M. Cader;Zameel M. Cader;B. Müller-Myhsok;S. Schreiber;T. Meitinger;Jenny Casey Eriksson;J. Eriksson;V. Salomaa;K. Heikkilä;E. Loehrer;E. Loehrer;A. Uitterlinden;A. Hofman;C. Duijn;L. Cherkas;L. Pedersen;A. Stubhaug;A. Stubhaug;Christopher S Nielsen;C. Nielsen;M. Männikkö;E. Mihailov;L. Milani;Hartmut Göbel;A. Esserlind;A. F. Christensen;T. Hansen;T. Werge;T. Werge;T. Werge;Jaakko Kaprio;Jaakko Kaprio;A. Aromaa;Olli T. Raitakari;Olli T. Raitakari;M. Ikram;T. Spector;M. Järvelin;A. Metspalu;C. Kubisch;D. Strachan;M. Ferrari;A. C. Belin;M. Dichgans;M. Wessman;A. M. Maagdenberg;J. Zwart;J. Zwart;D. Boomsma;G. D. Smith;K. Stefánsson;K. Stefánsson;N. Eriksson;M. J. Daly;M. J. Daly;B. Neale;B. Neale;Jes Olesen;D. Chasman;D. Chasman;D. Nyholt;A. Palotie

通讯作者：

Context-Aware Prediction of Pathogenicity of Missense Mutations Involved in Human Disease

人类疾病中错义突变致病性的上下文感知预测

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