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相关概念视频

Genome Annotation and Assembly03:36

Genome Annotation and Assembly

18.9K
The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.6K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
13.6K
Genomics02:02

Genomics

36.5K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
36.5K
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

5.9K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
5.9K
RNA-seq03:21

RNA-seq

10.1K
RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
10.1K
DNA Microarrays02:34

DNA Microarrays

17.6K
Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
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相关实验视频

Updated: Jul 26, 2025

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
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GeniePool:基于云数据湖架构的基因组数据库与相应的注释样本.

Noam Hadar1,2, Grisha Weintraub3, Ehud Gudes3

  • 1The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel.

Database : the journal of biological databases and curation
|June 13, 2023
PubMed
概括
此摘要是机器生成的。

GeniePool提供了从序列读取档案 (SRA) 获取人类基因组和表型数据的简单访问. 这一新的Web服务和API简化了对临床和研究应用的下一代测序 (NGS) 数据的查询.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Exploring the Effects of Spaceflight on Mouse Physiology using the Open Access NASA GeneLab Platform
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Exploring the Effects of Spaceflight on Mouse Physiology using the Open Access NASA GeneLab Platform

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相关实验视频

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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科学领域:

  • 基因组学就是基因组学.
  • 生物信息学是一种生物信息学.
  • 数据科学数据科学数据科学

背景情况:

  • 越来越多的基因组数据流入需要综合的表型相关性.
  • 现有的数据库缺乏简单的存储和可访问的组合基因型-表型信息.
  • 序列读取档案 (SRA) 包含了大量的下一代测序 (NGS) 数据,但普通用户无法访问.

研究的目的:

  • 创建一个可访问的平台,从SRA查询人类NGS数据和相关属性.
  • 为临床医生和研究人员提供用户友好的Web服务和API.
  • 通过整合表型数据来克服现有的基因组数据库的局限性.

主要方法:

  • 使用SRAtoolkit开发了一个管道,从SRA下载原始人类NGS数据.
  • 使用GATK管道进行预处理的数据.
  • 在云数据湖中存储数据,通过REST API和网站进行高效访问.

主要成果:

  • 生成了GeniePool,这是一个用于查询SRA的NGS数据的Web服务和API.
  • 允许直接访问关于样本和相关研究的信息.
  • 与现有数据库相比,为临床和研究用途提供了显著的优势.

结论:

  • GeniePool是一个多用途工具,利用数据湖基础设施用于各种临床和研究应用.
  • 该平台提供了一种简单而直观的方式来探索日常临床实践和研究努力的元数据.
  • GeniePool提高了SRA数据对科学界的有用性.