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基因卡片套件:从基因数据挖掘到疾病基因组序列分析

The GeneCards Suite: From Gene Data Mining to Disease Genome Sequence Analyses.

作者信息

Stelzer Gil, Rosen Naomi, Plaschkes Inbar, Zimmerman Shahar, Twik Michal, Fishilevich Simon, Stein Tsippi Iny, Nudel Ron, Lieder Iris, Mazor Yaron, Kaplan Sergey, Dahary Dvir, Warshawsky David, Guan-Golan Yaron, Kohn Asher, Rappaport Noa, Safran Marilyn, Lancet Doron

机构信息

Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.

These authors contributed equally to the paper.

出版信息

Curr Protoc Bioinformatics. 2016 Jun 20;54:1.30.1-1.30.33. doi: 10.1002/cpbi.5.

Abstract

GeneCards, the human gene compendium, enables researchers to effectively navigate and inter-relate the wide universe of human genes, diseases, variants, proteins, cells, and biological pathways. Our recently launched Version 4 has a revamped infrastructure facilitating faster data updates, better-targeted data queries, and friendlier user experience. It also provides a stronger foundation for the GeneCards suite of companion databases and analysis tools. Improved data unification includes gene-disease links via MalaCards and merged biological pathways via PathCards, as well as drug information and proteome expression. VarElect, another suite member, is a phenotype prioritizer for next-generation sequencing, leveraging the GeneCards and MalaCards knowledgebase. It automatically infers direct and indirect scored associations between hundreds or even thousands of variant-containing genes and disease phenotype terms. VarElect's capabilities, either independently or within TGex, our comprehensive variant analysis pipeline, help prepare for the challenge of clinical projects that involve thousands of exome/genome NGS analyses. © 2016 by John Wiley & Sons, Inc.

摘要

《基因卡片》是人类基因纲要,能让研究人员有效地梳理并关联人类基因、疾病、变异、蛋白质、细胞及生物途径的广阔领域。我们最近推出的第4版有经过改进的基础设施,便于更快地更新数据、更有针对性地进行数据查询以及提供更友好的用户体验。它还为《基因卡片》系列配套数据库及分析工具提供了更坚实的基础。改进的数据整合包括通过《疾病卡片》建立基因与疾病的联系、通过《通路卡片》合并生物途径,以及药物信息和蛋白质组表达。《变异分析》是该系列的另一个工具,它是用于下一代测序的表型优先级排序工具,利用了《基因卡片》和《疾病卡片》知识库。它能自动推断数百甚至数千个含变异基因与疾病表型术语之间的直接和间接评分关联。《变异分析》的功能,无论是独立使用还是在我们的综合变异分析流程TGex中使用,都有助于应对涉及数千次外显子组/基因组NGS分析的临床项目所带来的挑战。© 2016约翰威立国际出版公司

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