现型风险评分可以识别未被识别的孟德尔病模式的患者
Lisa Bastarache1, Jacob J Hughey1, Scott Hebbring2
1Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
概括
这项研究引入了表型风险评分 (PheRS),以根据孟德尔疾病模式汇总患者的表型. 这种方法可以更好地识别遗传关联和罕见变异的影响.
科学领域:
- 遗传学
- 医疗信息学
- 计算生物学
背景情况:
- 遗传关联研究通常独立分析表型,可能会忽视复杂的遗传影响.
- 传统方法可能会忽略具有多个表型的共同遗传原因的子群.
研究的目的:
- 开发和验证一种聚合表型的新方法,以改善遗传关联的检测.
- 利用孟德尔疾病的模式创建一个强大的表型总结工具.
主要方法:
- 将1204种孟德尔病的临床特征映射到从电子健康记录 (EHR) 中提取的表型中.
- 开发了表型风险评分 (PheRS) 来总结聚合的表型证据.
- 在区分五种孟德尔病的病例和对照中验证了PheRS.
- 将PheRS应用于21,701个基因型个体,以确定罕见的变异型-表型关联.
主要成果:
- 在初步验证中,PheRS成功区分了五种孟德尔病的病例和对照.
- 在大型队列中确定了罕见遗传变异与孟德尔病一致的表型之间的18个关联.
- 在16名患者中观察到严重的结局,包括器官移植,与罕见的遗传变异有关.
结论:
- 现型风险评分 (PheRS) 提供了一种强大的方法来增强罕见变异的解释.
- 这种方法可以识别具有独特遗传原因的患者子集,可能适用于常见疾病.
- 通过考虑聚合的临床特征,PheRS增强了基因型-表型关系的发现.
相关概念视频
Introduction to z Scores
11.3K
A z score (or standardized value) is measured in units of the standard deviation. It tells you how many standard deviations the value x is above (to the right of) or below (to the left of) the mean, μ. Values of x that are larger than the mean have positive z scores, and values of x that are smaller than the mean have negative z scores. If x equals the mean, then x has a zero z score. It is important to note that the mean of the z scores is zero, and the standard deviation is one.
z scores...
z scores...
11.3K
Introduction to z Scores
1.4K
A z score (or standardized value) is measured in units of the standard deviation. It indicates how many standard deviations the value x is above (to the right of) or below (to the left of) the mean, μ. Values of x that are larger than the mean have positive z scores, and values of x that are smaller than the mean have negative z scores. If x equals the mean, then x has a zero z score. It is important to note that the mean of the z scores is zero, and the standard deviation is one.
z scores...
z scores...
1.4K
z Scores and Area Under the Curve
19.6K
z scores are the standardized values obtained after converting a normal distribution into a standard normal distribution. A z score is measured in units of the standard deviation. The z score tells you how many standard deviations the value x is above (to the right of) or below (to the left of) the mean, μ. Values of x that are larger than the mean have positive z scores, and values of x that are smaller than the mean have negative z scores. If x equals the mean, then x has a z score of...
19.6K
Relative Risk
2.2K
Relative risk (RR) is a statistical measure commonly used in epidemiology to compare the likelihood of a particular event occurring between two groups. This metric is important for evaluating the relationship between exposure to a specific risk factor and the probability of a particular outcome. It plays a crucial role in medical research, public health studies, and risk assessment. Relative risk quantifies how much more (or less) likely an event is to occur in an exposed group compared to an...
2.2K
z Scores and Unusual Values
11.1K
The z score is one of the three measures of relative standing. It describes the location of a value in a dataset relative to the mean. z scores are obtained after the standardization of the values in a dataset. The z score for the mean is 0.
This score indicates how far a value is from the mean in terms of standard deviation. For example, if a data value has a z score of +1, the researcher can infer that the particular data value is one standard deviation above the mean. If another data...
This score indicates how far a value is from the mean in terms of standard deviation. For example, if a data value has a z score of +1, the researcher can infer that the particular data value is one standard deviation above the mean. If another data...
11.1K
Fixed Action Patterns
17.7K
A fixed action pattern (FAP) is a specific, hard-wired sequence of behaviors that occurs in response to an external stimulus, called a sign stimulus. The behavior is “fixed” because it is essentially unchangeable—proceeding similarly across individuals of a species every time it occurs.
17.7K


