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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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Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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Tumor Progression02:07

Tumor Progression

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Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
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Genome Size and the Evolution of New Genes03:21

Genome Size and the Evolution of New Genes

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While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
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Microorganisms in Medicine and Therapeutics01:29

Microorganisms in Medicine and Therapeutics

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Microorganisms play a fundamental role in vaccine development, gene therapy, and therapeutic production. Their biological properties are harnessed to advance medicine and public health. Beyond immunization, microorganisms contribute to gut health, antibiotic synthesis, and genetic disease treatment.Live Attenuated and Inactivated VaccinesLive attenuated vaccines, such as the measles, mumps, and rubella (MMR) vaccine, utilize weakened forms of pathogens to closely resemble natural infections.
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Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes02:16

Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes

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The present-day mitochondrial and chloroplast genomes have retained some of the characteristics of their ancestral prokaryotes and also have acquired new attributes during their evolution within eukaryotic cells. Like prokaryotic genomes, mitochondrial and chloroplast genomes neither bind with histone-like proteins nor show complex packaging into chromosome-like structures, as observed in eukaryotes. Unlike mitotic cell divisions observed in eukaryotic cells, mitochondria and chloroplasts...
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Ultra-long Read Sequencing for Whole Genomic DNA Analysis
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Ultra-long Read Sequencing for Whole Genomic DNA Analysis

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ゲノム 医学 - 進歩,落とし穴,希望

Jay Shendure1, Gregory M Findlay2, Matthew W Snyder2

  • 1Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.

Cell
|March 23, 2019
PubMed
まとめ

ゲノム医学は医療の変革に 期待を寄せていますが その影響は当初予想していたよりも 長期に渡って 大きく変化しています ゲノタイプとフェノタイプの関係をより深く理解することは,その潜在能力を完全に実現するために不可欠です.

科学分野:

  • ゲノム医学
  • 人間 の 遺伝子
  • 医学 研究

背景:

  • ヒューマンゲノム・プロジェクト (HGP) は 病気の診断,治療,予防に革命をもたらすゲノム学への期待を高めた.
  • 新興分野であるゲノム医学は,これらの期待を満たすための進歩と課題を評価しています.

研究 の 目的:

  • ゲノム医学の現在の影響と将来の軌道を評価する.
  • ゲノミクスが成功している地域と 失敗している地域を特定する
  • 予期せぬ出来事を 調べるためだ

主な方法:

  • この展望は ゲノム医学の進歩に関する 現在の理解と専門家の意見をまとめています
  • ゲノム洞察を臨床に適用する成功,限界,将来の方向性を批判的に評価する.

主要な成果:

  • ゲノミクスは特定の分野において 約束を果たしていますが 医学の変革は当初予想していたよりも 複雑で長く続いています
  • 予期せぬ出来事が起きて 進路の再評価が必要になりました
  • この分野では ゲノムデータを 実行可能な臨床洞察に完全に変換する上で 課題に直面しています

結論:

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  • ゲノム医学がもたらす 変革の可能性に対する 初期的な楽観主義はまだ正当化されていますが その影響の時間軸と形態は 進化しています
  • ヒトゲノミクスの恩恵を完全に享受するには ゲノタイプとフェノタイプの関係を 完全に理解することが不可欠です
  • ゲノム医学を進めるために,基本的な生物学的な理解に焦点を当てた"基礎に戻る"アプローチが推奨されています.