Genetic variations and diseases in UniProtKB/Swiss-Prot: the ins and outs of expert manual curation.
Genetic variations and diseases in UniProtKB/Swiss-Prot: the ins and outs of expert manual curation.
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DOI：
10.1002/humu.22594
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发表时间：
2014-08
期刊：
影响因子：
3.9
通讯作者：
Xenarios, Ioannis
中科院分区：
文献类型：
--
作者：
Famiglietti, Maria Livia;Estreicher, Anne;Gos, Arnaud;Bolleman, Jerven;Gehant, Sebastien;Breuza, Lionel;Bridge, Alan;Poux, Sylvain;Redaschi, Nicole;Bougueleret, Lydie;Xenarios, Ioannis
关键词：
在过去几年中，下一代测序（NGS）技术加速了对遗传变异的检测，从而快速发现新的疾病相关基因。然而，仅凭NGS提供的丰富变异数据还不足以理解疾病的发病机制和表现。需要将序列和临床数据与先前的生物学知识相结合的多学科方法来揭示遗传变异在人类健康和疾病中的作用。在这方面，至关重要的是将这些数据联系起来，组织起来，并通过可靠的在线资源随时提供。通用蛋白质知识库（UniProtKB/Swiss-Prot）的Swiss-Prot部分为科学界提供了关于蛋白质功能、相互作用、生物途径以及人类遗传疾病和变异的信息集合，所有这些信息都由专家手工审查。在本文中，我们概述了UniProtKB/Swiss-Prot的信息内容，以展示该知识库如何支持研究人员阐明从分子缺陷到疾病表型的机制。
During the last few years, next-generation sequencing (NGS) technologies have accelerated the detection of genetic variants resulting in the rapid discovery of new disease-associated genes. However, the wealth of variation data made available by NGS alone is not sufficient to understand the mechanisms underlying disease pathogenesis and manifestation. Multidisciplinary approaches combining sequence and clinical data with prior biological knowledge are needed to unravel the role of genetic variants in human health and disease. In this context, it is crucial that these data are linked, organized, and made readily available through reliable online resources. The Swiss-Prot section of the Universal Protein Knowledgebase (UniProtKB/Swiss-Prot) provides the scientific community with a collection of information on protein functions, interactions, biological pathways, as well as human genetic diseases and variants, all manually reviewed by experts. In this article, we present an overview of the information content of UniProtKB/Swiss-Prot to show how this knowledgebase can support researchers in the elucidation of the mechanisms leading from a molecular defect to a disease phenotype.
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影响因子：
5.8
作者：
Care, Matthew A.;Needham, Chris J.;Westhead, David R.
通讯作者：
Westhead, David R.
来自1,092个人基因组的遗传变异的综合图。
影响因子：
64.8
作者：
通讯作者：
--
DOI：
10.1074/jbc.m112.341487
发表时间：
2012-06-08
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Zhang Q;Yu D;Seo S;Stone EM;Sheffield VC
通讯作者：
Sheffield VC
影响因子：
14.9
作者：
MacArthur JA;Morales J;Tully RE;Astashyn A;Gil L;Bruford EA;Larsson P;Flicek P;Dalgleish R;Maglott DR;Cunningham F
通讯作者：
Cunningham F
DOI：
10.1126/science.1219240
发表时间：
2012-07-06
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Tennessen JA;Bigham AW;O'Connor TD;Fu W;Kenny EE;Gravel S;McGee S;Do R;Liu X;Jun G;Kang HM;Jordan D;Leal SM;Gabriel S;Rieder MJ;Abecasis G;Altshuler D;Nickerson DA;Boerwinkle E;Sunyaev S;Bustamante CD;Bamshad MJ;Akey JM;Broad GO;Seattle GO;NHLBI Exome Sequencing Project
通讯作者：
NHLBI Exome Sequencing Project