患者のゲノムを明らかにせずにゲノム診断を導き出す
Karthik A Jagadeesh1, David J Wu1, Johannes A Birgmeier1
1Department of Computer Science, Stanford University, Stanford, CA 94305, USA.
まとめ
患者さんのプライバシーを 保護しながらも 珍しい病気のゲノム診断は 今や可能になっています この方法は 病因的な変異や新しい疾患の遺伝子を特定し 敏感な遺伝情報を保護します
科学分野:
- ゲノミクス
- バイオ情報学
- コンピュータ生物学
背景:
- 患者のゲノムを解釈するには 他のゲノムとの比較が必要ですが 共有することで プライバシーの問題が生じます
- 多くの単一性疾患はゲノム診断と潜在的な治療標的を特定しています.
研究 の 目的:
- ゲノム診断のプライバシー保護方法を示すため,セキュアなマルチパーティコンピューティングを使用します.
- 参加者の機密性を保ちながら,病気を引き起こす遺伝子変異の正確な識別を可能にします.
主な方法:
- 分散型ゲノムデータ分析のためのセキュアマルチパーティコンピューティング (SMC) の実装.
- 小規模コホート,トリオ分析,多機関協力を含む様々な臨床シナリオにおけるSMCの適用
主要な成果:
- 現実世界のシナリオにおける単一性疾患の因果変異の成功的特定
- 以前は知られていなかった 病気の遺伝子や変異体の発見
- 敏感なゲノムデータを 99.7% プライバシーにしました
結論:
- プライバシーを守るゲノム診断の 実現可能な解決策を 提供しています
- このアプローチは共同研究を容易にし 遺伝疾患のメカニズムの発見を加速します
- この方法は,大規模なゲノムデータ分析と 厳格な参加者のプライバシー要件とのバランスをとります.
さらに関連する動画
11:35Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
Published on: August 21, 2016
13.6K
05:53Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
10.8K
関連する概念動画
Genomics
41.1K
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...
41.1K
Genome-wide Association Studies-GWAS
15.9K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
15.9K
Genetic Screens
5.8K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.8K
Pharmacogenomics: Identification of New Drug Targets
49
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
49
Evolutionary Relationships through Genome Comparisons
7.1K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
7.1K
