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関連する概念動画

Genetic Variation01:25

Genetic Variation

274
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,...
274
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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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%...
17.7K
Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

3.9K
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...
3.9K
Conservation of Protein Domains Over Different Proteins02:26

Conservation of Protein Domains Over Different Proteins

10.8K
Protein domains are small structurally independent units that are part of a single amino acid chain.  Although these domains are often structurally independent, they may rely on synergistic effects to perform their functions as part of a larger protein. Protein domains may be conserved within the same organism, as well as across different organisms.
A limited set of protein domains often duplicate and recombine during evolution. These domains can be organized in different combinations to...
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

15.0K
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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Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

7.1K
The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
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関連する実験動画

Updated: Jun 25, 2025

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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983,578 個のタンパク質コードの多様性の詳細なカタログ

Kathie Y Sun1, Xiaodong Bai1, Siying Chen1

  • 1Regeneron Genetics Center, Tarrytown, NY, USA.

Nature
|May 20, 2024
PubMed
まとめ

この研究は,約100万のエクソムのヒト遺伝子の多様性の包括的なカタログを提示します. 新しい遺伝子変異を特定し,遺伝子機能と疾患関連性についての洞察を提供します.

さらに関連する動画

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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関連する実験動画

Last Updated: Jun 25, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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科学分野:

  • ゲノミクス
  • 人間遺伝学
  • 集団遺伝学

背景:

  • 遺伝子の機能に関する洞察を 提供しています
  • これらの変異を特定するには 大規模なシーケンシングデータが必要です
  • 以前の研究では 稀な変異を総合的に分類するサンプルサイズが不足していた.

研究 の 目的:

  • ヒトのタンパク質コードの多様性に関する 総合的なカタログを作成します
  • 機能喪失 (LOF) 変異を持つ遺伝子を特定し,LOFに対する遺伝子不耐性を評価する.
  • ミッセンスの変異の減少地域を定義し,潜在的に有害な変異を特定する.

主な方法:

  • 多様な集団から 983,578 個のエクソムの配列化
  • 1040万件以上のミスセンスと110万件以上の予測機能喪失 (pLOF) 変種を分析した.
  • ヘテロジゴトのLOFとミッセンスの変種枯渇に対する選択の定量的な見積もり.

主要な成果:

  • 1150万種類以上のヒトのタンパク質の 変異のカタログです
  • 4,848の遺伝子が稀なバイアレル型pLOF変異体で特定され,1,751の遺伝子は以前報告されていなかった.
  • 3,988のLOF不耐性遺伝子と, 1,482のミスセンスの欠乏した遺伝子の発見.
  • ヒトの3%が臨床的に有効な変異体を持っていると推定され,ClinVarで有害な変異体11773種が特定されました.

結論:

  • 作成されたカタログは,変種解釈と精密医療のための貴重なリソースを提供します.
  • この研究は,遺伝子機能,LOF不耐性,およびミセンス変異の制約に関する理解を洗練します.
  • このデータの公開は 遺伝子研究と臨床応用を加速させるでしょう