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関連する概念動画

Genetic Variation01:25

Genetic Variation

387
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,...
387
Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
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Genomics02:02

Genomics

37.4K
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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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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Synthetic Biology02:55

Synthetic Biology

4.9K
Synthetic biology is an interdisciplinary science that involves using principles from disciplines such as engineering, molecular biology, cell biology, and systems biology. It involves remodeling existing organisms from nature or constructing completely new synthetic organisms for applications such as protein or enzyme production, bioremediation, value-added macromolecule production, and the addition of desirable traits to crops, to name a few.
Golden rice
Golden rice is a genetically modified...
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Mutations in Microorganisms01:18

Mutations in Microorganisms

74
Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
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Updated: Sep 9, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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ClinGen Variant Curation インターフェースワークショップ:国際プラットフォームでの変種科学者養成

D I Ritter, M Mandell, C Preston

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    |September 5, 2025
    PubMed
    まとめ
    この要約は機械生成です。

    国際的なワークショップでは,臨床ゲノムリソース (ClinGen) 変異キュレーションインターフェース (VCI) のゲノム医学での使用を効果的に促進しました. 地元科学者の研修は,ClinGenとの持続的な関わりを助長しました.

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    Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
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    Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
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    科学分野:

    • ゲノム医学
    • 臨床ゲノミクス
    • バイオインフォマティクスツール

    背景:

    • クリニカル・ゲノム・リソース (ClinGen) は,臨床的に重要な遺伝的知識を集中させることを目的としています.
    • ClinGenのツールの普及は ゲノム医学の進歩に不可欠です
    • 国際的な遺伝学コミュニティを巻き込むことは 資源の普及の鍵です

    研究 の 目的:

    • ClinGenのツール,特にVariant Curation Interface (VCI) の持続的な使用を評価する.
    • 国際的な研修ワークショップが,ClinGenツールの採用を促進する際の効果を評価する.
    • ClinGen VCI インスタンスの展開に関連する組織面とコストを分析する.

    主な方法:

    • 国際的な遺伝学グループとClinGen Variant Curation Interface (VCI) を使ってトレーニングワークショップを開催しました.
    • ワークショップの前と後のアンケートで,参加者の知識と意図されたツールの使用を評価します.
    • ClinGenツールの使用データを分析し,専用のVCIインスタンスを作成するコストを評価した.

    主要な成果:

    • ワークショップには200人以上が参加し,地元の科学者が多大な関与しました.
    • 約79%の参加者は,変種分類に初心がないにもかかわらず,VCIのポストワークショップを使用する可能性を示しました.
    • 参加者の約10%がVCIアカウントを作成し,VCIインスタンスあたり3ドルのコストが推定されています.

    結論:

    • 国際的なワークショップは,ClinGenの変種キュレーションツールの持続的な使用を促すのに有効です.
    • ワークショップの展開と ツール採用の成功には 地元科学者の関与が不可欠です
    • 将来の取り組みは,階層化されたユーザーグループと継続的な地元の関与を考慮して,最適な効果を上げなければなりません.