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相关概念视频

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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...
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Genetic Screens02:46

Genetic Screens

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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...
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Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers01:19

Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers

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Cardiac biomarkers are critical in diagnosing, prognosing, and managing cardiovascular diseases. Routine measurement of specific biomarkers such as B-type natriuretic peptide (BNP), C-reactive protein (CRP), and homocysteine (Hcy) is common practice in clinical settings to evaluate heart function and predict cardiovascular events.
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
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Assessment of the Cardiovascular System I: Subjective Data01:23

Assessment of the Cardiovascular System I: Subjective Data

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A thorough health history and physical assessment are essential for identifying cardiovascular disease (CVD) symptoms and distinguishing them from other health issues.
Initial Enquiry
Ask the patient about their primary concern and thoroughly explore all reported symptoms.
Medical History
Investigate past illnesses affecting the cardiovascular system, such as angina, anemia, rheumatic fever, congenital heart disease, stroke, thrombophlebitis, dysrhythmias, varicosities
Inquire about symptoms...
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Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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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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在心血管疾病中进行基因检测.

Michael P Gray1,2, Diane Fatkin3, Jodie Ingles4

  • 1University of Sydney, Sydney, NSW.

The Medical journal of Australia
|April 4, 2024
PubMed
概括

基因检测正在推进心血管疾病 (CVD) 风险预测. 多基因风险评分为个性化预防策略提供了新的途径,超越了遗传性心血管疾病的传统遗传测试.

关键词:
基因检测是一种基因检测.

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科学领域:

  • 遗传学 遗传学 是一个
  • 心脏病学 心脏病学
  • 生物信息学是一种生物信息学.

背景情况:

  • 心血管疾病 (CVD) 是全球主要的健康负担,导致严重的死亡率和发病率.
  • 技术和生物信息学的进步使得与特定的遗传心血管疾病 (如家族性高胆固醇血症) 相关的遗传变异的识别成为可能.
  • 对心血管疾病的基因检测越来越容易获得和负担得起.

研究的目的:

  • 探索遗传学在常见心血管疾病中的作用.
  • 讨论复杂心血管疾病的多基因风险评分的应用.
  • 突出基因洞察力对个性化心血管风险预测和预防的潜力.

主要方法:

  • 关于对心血管疾病的遗传贡献的当前文献的审查.
  • 解释多基因风险评分作为复杂遗传特征的工具.
  • 讨论直接向消费者提供基因测试的可访问性.

主要成果:

  • 单基遗传模式在特定的心血管疾病中很常见,可以通过遗传检测来识别.
  • 常见的心血管疾病,如冠状动脉疾病和心房动,受到众多小效应遗传变异的影响.
  • 多基因风险评分在数学上整合了这些变体,以进行全面的风险评估.

结论:

  • 了解心血管疾病的遗传结构对于推进个性化医学的发展至关重要.
  • 多基因风险评分代表了预测常见心血管疾病风险的重大发展.
  • 基因组洞察力有望为定制预防疗法和改善心血管疾病的临床管理提供希望.