在人类医学遗传学中对生成性AI应用进行系统审查
Anton Changalidis1, Yury Barbitoff1, Yulia Nasykhova1
1Department of Genomic Medicine D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology, St. Petersburg, Russia.
Frontiers in genetics
|February 4, 2026
概括
生成型人工智能,特别是大型语言模型 (LLM),在推进人类医学基因组学以诊断遗传性疾病方面表现有前途. 然而,在整合不同的数据类型用于临床应用方面,仍然存在挑战.
科学领域:
- 基因组学和生物信息学
- 人工智能在医学中的应用
- 计算生物学 计算生物学
背景情况:
- 传统的统计和机器学习方法在复杂,高维的遗传数据方面面临局限性.
- 基于变压器架构的深度学习模型,特别是基于变压器架构的大型语言模型 (LLM),提供了分析非结构化医疗数据的高级功能.
- 在医学基因组学方面,LLM的潜力越来越多,包括疾病诊断和遗传研究.
研究的目的:
- 系统地审查生成性AI的作用,重点是LLM,在人类医学基因组学中用于罕见和常见遗传性疾病研究和诊断.
- 评估目前在遗传诊断和教育中LLM的能力和局限性.
- 为导航医学基因组学LLM不断变化的领域提供指南.
主要方法:
- 在PubMed,bioRxiv,medRxiv和arXiv进行了基于关键字的自动搜索.
- 专注于与遗传学诊断和教育中的LLM应用相关的研究.
- 分析了195项选定的研究,不包括无关或过时的模型.
主要成果:
- 在临床数据中识别分子诊断和解释遗传变异等任务中,LLM表现出强的表现.
- 在知识导航,临床和遗传数据分析以及患者/专业人员互动方面确定了关键的应用前景.
- 基于变压器的模型在各种遗传诊断和教育任务中显示出多功能性.
结论:
- 法律学具有改变遗传性疾病诊断和支持遗传教育的巨大潜力.
- 主要挑战包括将多模式数据 (基因组,成像,临床记录) 整合到统一的管道中.
- 一般化和实际临床实施的局限性需要进一步的研究和开发.
相关概念视频
Human Genetics
1.6K
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...
The complex relationship between genetics and psychology is observable through common biological components such...
1.6K
Review and Preview
8.4K
In statistics, several tools are used to interpret the data. Measures of central tendency represent the characteristics of the data, such as mean, median, and mode. Additionally, measures of variance like standard deviation and range are used to find the spread of data from the mean. Relative standing measures the distance between data locations. Commonly used measures of relative standings are percentile, z score, and quartiles.
Percentiles are a type of fractile that partition data into...
Percentiles are a type of fractile that partition data into...
8.4K
Review and Preview
11.4K
Data are individual items of information obtained from a population or sample. Data may be classified as qualitative (categorical), quantitative continuous, or quantitative discrete. Because it is not practical to measure the entire population in a study, researchers use samples to represent the population. A random sample is a representative group from the population chosen by using a method that gives each individual in the population an equal chance of being included in the sample. Random...
11.4K
Random and Systematic Errors
15.1K
Scientists always try their best to record measurements with the utmost accuracy and precision. However, sometimes errors do occur. These errors can be random or systematic. Random errors are observed due to the inconsistency or fluctuation in the measurement process, or variations in the quantity itself that is being measured. Such errors fluctuate from being greater than or less than the true value in repeated measurements. Consider a scientist measuring the length of an earthworm using a...
15.1K
Types of Genetic Transfer Between Organisms
30.8K
Genetic transfer occurs when genetic information is passed from one organism to another. It occurs via two mechanisms: vertical gene transfer and horizontal gene transfer. Vertical gene transfer occurs when genetic information is transferred from one generation to the next, which happens much more frequently than horizontal gene transfer. Both sexual and asexual reproduction are forms of vertical gene transfer, where one or more organisms pass some or all of their genome onto their progeny.
30.8K
Systematic Sampling Method
13.3K
Sampling is a technique to select a portion (or subset) of the larger population and study that portion (the sample) to gain information about the population. Data are the result of sampling from a population. The sampling method ensures that samples are drawn without bias and accurately represent the population. Because measuring the entire population in a study is not practical, researchers use samples to represent the population of interest.
Systematic sampling is one of the simplest methods...
Systematic sampling is one of the simplest methods...
13.3K


