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関連する概念動画

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.9K
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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Genetic Variation01:25

Genetic Variation

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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,...
392
Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

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Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Genomics02:02

Genomics

37.5K
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...
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Human Genetics01:28

Human Genetics

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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...
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関連する実験動画

Updated: Sep 14, 2025

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

Published on: August 15, 2019

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ほぼ完全なヒトゲノムにおける複雑な遺伝的多様性

Glennis A Logsdon1,2, Peter Ebert3,4, Peter A Audano5

  • 1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Nature
|July 23, 2025
PubMed
まとめ

この研究では 65の多様なヒトゲノムを配列化し 130のハプロタイプ解析アセンブリを作成しました これは,ゲノムアセンブリを大幅に改善し,病気関連研究のためのギャップを埋めて複雑な構造的変異を解決しました.

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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

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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

Published on: April 4, 2018

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関連する実験動画

Last Updated: Sep 14, 2025

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

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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

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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

Published on: April 4, 2018

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科学分野:

  • ゲノミクス
  • 人間 の 遺伝子
  • 構造的変化

背景:

  • 完全なヒトゲノム配列は 遺伝的多様性や複雑な構造的変異を理解するために不可欠です
  • 過去のゲノムアセンブリには,特に複雑な領域とセンターメアにおいて,大きなギャップがありました.

研究 の 目的:

  • ヒトゲノムアセンブリをハプロタイプで解析する.
  • 複雑なゲノム位置と構造変異の解像度を向上させる
  • ゲノイピングと全ゲノム推論の精度を高めるため

主な方法:

  • 65種類のヒトゲノムを 配列化しました
  • ハプロタイプ解析による130のゲノムアセンブリの構築
  • 人間のセンターメアの完全な組み立てと検証

主要な成果:

  • 39%の染色体でテロメア対テロメア状態に達する高隣接性アセンブリ (中位130 Mb) を達成した.
  • 1,852の複雑な構造変異と 1,246のヒトセンターメアの完全解像度
  • ゲノイピングの精度が向上し,高品質の全ゲノム推論を可能にしました.

結論:

  • 生成されたパンゲノム参照は,構造変異の検出を大幅に強化します.
  • このリソースは,より正確な遺伝データを提供することで,下流疾患関連研究を容易にする.
  • 完全なゲノムアセンブリは,ヒトの遺伝的多様性を包括的に理解するために不可欠です.