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Ensembl variation resources
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DOI：10.1093/database/bay119.png)
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摘要
En 中文
The major goal of sequencing humans and many other species is to understand the link between genomic variation, phenotype and disease. There are numerous valuable and well-established variation resources, but collating and making sense of non-homogeneous, often large-scale data sets from disparate sources remains a challenge. Without a systematic catalogue of these data and appropriate query and annotation tools, understanding the genome sequence of an individual and assessing their disease risk is impossible. In Ensembl, we substantially solve this problem: we develop methods to facilitate data integration and broad access; aggregate information in a consistent manner and make it available a variety of standard formats, both visually and programmatically; build analysis pipelines to compare variants to comprehensive genomic annotation sets; and make all tools and data publicly available.
Keyword:
ONLINE MENDELIAN INHERITANCE
SEQUENCE VARIANTS
DATABASE
GENOMES
ASSOCIATION
PROJECT
REPOSITORY
PHENOTYPE
PLATFORM
CATALOG
AI总结
对已上传原文的论文进行重点信息的提取，主要内容包括：简要概述、研究摘要、背景介绍、关键亮点、图文解析、展望与总结。
期刊
D
IF:
3.6
论文数:
1.8K
被引数:
6.1K
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引用论文
Defective number module or impaired access? Numerical magnitude processing in first graders with mathematical difficulties有缺陷的号码模块或受损的访问？数学困难的一年级学生的数值大小处理OAAI
OAAI分享收藏Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm使用SIFT算法预测编码非同义变体对蛋白质功能的影响.png)
NATURE PROTOCOLS
NATURE PROTOCOLSIF16
PREAI
分享收藏Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assemblyGRCh38和从头单倍体基因组装配的评估证明了参考装配的持久质量GENOME RESEARCHOAAI
GENOME RESEARCHIF5.5
OAAI分享收藏ZFIN, the Zebrafish Model Organism Database: increased support for mutants and transgenicsNUCLEIC ACIDS RESEARCHOAAI
NUCLEIC ACIDS RESEARCHIF13.1
OAAI分享收藏The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataNUCLEIC ACIDS RESEARCHOAAI
NUCLEIC ACIDS RESEARCHIF13.1
OAAI分享收藏Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology序列变异解释的标准和指南: 美国医学遗传学和基因组学学院和分子病理学协会的联合共识建议GENETICS IN MEDICINEOAAI
GENETICS IN MEDICINEIF6.2
OAAI分享收藏DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl ResourcesDECIPHER: 使用Ensembl资源的人类染色体失衡和表型数据库OAAI
OAAI分享收藏
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