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関連する概念動画

Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Human Virome01:26

Human Virome

The human body harbors a vast and diverse viral community known as the human virome. The virome includes bacteriophages that infect bacteria, and eukaryotic viruses that infect human cells. Transient dietary and environmental viruses also contribute to this dynamic ecosystem. Estimates suggest the human body may contain on the order of 10¹³ viral particles, though abundance varies widely by body site and detection method.Comprehensive characterization of the virome has become possible only with...
Genetic Variation01:25

Genetic Variation

Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles, which...
Genomics02:02

Genomics

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...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

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Updated: Jun 28, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

遺伝子についてです. "ヒューマン・バリオーム・プロジェクト"

Richard G H Cotton1, Arleen D Auerbach, Myles Axton

  • 1Genomic Disorders Research Centre, Howard Florey Institute, Melbourne, Australia. cotton@unimelb.edu.au

Science (New York, N.Y.)
|November 8, 2008
PubMed
まとめ
この要約は機械生成です。

新しいイニシアチブでは,ヒトの健康に影響を与える遺伝的変異に関するデータを収集し,整理しています. この貴重な情報は,世界中の研究者がよりアクセスしやすくなっています.

さらに関連する動画

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

関連する実験動画

Last Updated: Jun 28, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

科学分野:

  • 遺伝学 遺伝学とは
  • バイオインフォマティックス
  • ゲノム医学はゲノム医学である.

背景:

  • 遺伝的多様性は,人間の健康と病気を理解するために不可欠です.
  • これらのデータを統合する以前の取り組みは,断片的であった.
  • 研究を加速するために,包括的なリソースが必要です.

研究 の 目的:

  • 遺伝的多様性データの集中的かつアクセス可能なリポジトリを確立する.
  • ゲノタイプ-フェノタイプ関係の研究を容易にする.
  • 精密医療のイニシアチブを支援するためです.

主な方法:

  • 強力なデータ収集とキュレーションパイプラインの開発.
  • 標準化されたデータフォーマットとオントロジーを実装する.
  • データアクセスと分析のためのユーザーフレンドリーなプラットフォームの作成.

主要な成果:

  • データの取得と統合において,著しい進展がみられた.
  • 最初のデータセットには,ますます多くの遺伝的変異が含まれています.
  • 初期のユーザーフィードバックは,プラットフォームのユーティリティを示しています.

結論:

  • 総合的な遺伝子変異データベースを作成する計画が進行中です.
  • このリソースは,科学コミュニティにとって貴重な資産になると約束されています.
  • 遺伝データのアクセシビリティの向上は,健康研究を前進させるだろう.