関連する実験動画

Updated: May 3, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

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Published on: August 21, 2016

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プライム編集とディープラーニングを用いたすべてのATM SNVの機能評価

Kwang Seob Lee1, Joon-Goo Min2, Yumin Cheong3

  • 1Department of Pharmacology, Yonsei University College of Medicine, Seoul 03722, Republic of Korea.

Cell
|June 28, 2025
PubMed
まとめ

研究者らは,アタキシア・テランジエクタシア変異 (ATM) 遺伝子における全ての可能な単核酸変異 (SNV) を評価した. 細胞の健康状態に影響を与える重要な残留物を特定し,多様性の影響を予測するディープラーニングモデルを開発し,がんリスクと予後評価を支援した.

キーワード:
ATM についてPARP 阻害剤癌に罹患する傾向ディープラーニング精密医療メインエディター飽和ゲノム編集不確実な意味を持つ変種

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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%...
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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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Distribution reliability in electrical power systems is critical for ensuring an uninterrupted power supply to consumers at minimal cost. According to IEEE Standard Terms, reliability is the probability that a device will function without failure over a specified time period or amount of usage. For electric power distribution, this translates to maintaining continuous power supply and addressing customer concerns over power outages. Several indices, as defined by IEEE Standard 1366-2012, are...
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