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相关概念视频

What is Population Genetics?01:25

What is Population Genetics?

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A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
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Genomics02:02

Genomics

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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...
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Modern Molecular Taxonomy01:29

Modern Molecular Taxonomy

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Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
206
RNA-seq03:21

RNA-seq

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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...
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Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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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...
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相关实验视频

Updated: Sep 27, 2025

An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing
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An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing

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种群遗传学与单细胞测序相结合

Tomokazu S Sumida1,2, David A Hafler1,2,3

  • 1Department of Neurology, Yale School of Medicine, New Haven, CT, USA.

Science (New York, N.Y.)
|April 7, 2022
PubMed
概括

单细胞技术为解剖人类疾病的遗传基础提供了强有力的方法. 这种方法可以对单个细胞进行详细的分析,

科学领域:

  • 基因组学
  • 分子生物学
  • 人类遗传学

背景情况:

  • 了解人类复杂疾病的遗传基础仍然是一个重大挑战.
  • 传统的批量分析方法可以掩盖细胞间的变异性,掩盖疾病特异性的遗传变化.

研究的目的:

  • 突出单细胞技术在揭开人类疾病的遗传结构中的实用性.
  • 展示单细胞分辨率如何识别疾病中的新遗传因素和细胞异质性.

主要方法:

  • 应用先进的单细胞测序技术.
  • 大规模单细胞基因组数据的计算分析.
  • 疾病和健康细胞群之间的比较分析.

主要成果:

  • 特定的基因突变和单个疾病细胞独特的表达模式的识别.
  • 导致疾病表型的细胞异质性的特征.
  • 基于单细胞基因组洞察的潜在新疗法目标的发现.

结论:

  • 单细胞技术有助于我们更好地了解人类疾病的遗传基础.
  • 这种方法为识别疾病驱动因素和治疗策略提供了前所未有的解决方案.

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