相关实验视频

Updated: May 31, 2025

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

Published on: May 22, 2018

探索克罗地亚的药物基因组图:基于UMAP+HDBSCAN算法的522名患者队列的PGx聚类

Petar Brlek^1,2,3, Luka Bulić¹, Leo Mršić⁴

¹St. Catherine Specialty Hospital, 10000 Zagreb, Croatia.

International journal of molecular sciences

|January 25, 2025

概括

克罗地亚的药物遗传学研究将522名患者根据28种基因基因型分为六组. 像CYP2D6和SLCO1B1这样的关键基因显著决定了这些药物遗传集群,从而实现了个性化医学洞察力.

科学领域:

基因组医学是基因组医学.
药物遗传学药物遗传学
计算生物学计算生物学

背景情况:

药物遗传学旨在使用遗传信息来个性化药物处方,以减少药物不良反应和医疗保健成本.
药物不良反应对患者健康和医疗保健经济造成重大负担.
个性化医疗方法对于优化治疗结果至关重要.

研究的目的:

从克罗地亚人口中对患者进行基于药物遗传学的聚类.
确定影响患者分层的关键遗传标记.
评估已识别的药物遗传集群的临床相关性.

主要方法:

在28个药理学相关基因中对522名克罗地亚患者进行基因定型.
使用统一的多重近似和投影 (UMAP) 减少尺寸.
使用基于层次密度的应用程序与噪音的空间聚类 (HDBSCAN) 的聚类,通过决策树和机器学习模型 (RandomForest,XGBoost,ExtraTrees) 验证.

主要成果:

使用UMAP和HDBSCAN确定了六个不同的患者群 (轮得分=0.782).
鉴定出CYP2D6和SLCO1B1的基因型是集群形成的主要决定因素.
预测模型在将患者分配到集群中取得了高准确性,所有基因的平均ROC-AUC值为0.998,CYP2D6和SLCO1B1的平均值为1.000,单独CYP2D6的0.910.

结论:

药物遗传学聚类为患者表型提供了临床相关的见解.
CYP2D6和SLCO1B1基因型是患者集群的重要预测因素.
需要进行更大的队列研究,以进一步细化药物遗传基因型和表型之间的关联,以提高临床适用性.

关键词:

药物不良反应药物不良反应减少维度,减少维度.基于密度的等级聚类.药物遗传学药物遗传学无监督的机器学习

更多相关视频

QTL Mapping and CRISPR/Cas9 Editing to Identify a Drug Resistance Gene in Toxoplasma gondii

QTL Mapping and CRISPR/Cas9 Editing to Identify a Drug Resistance Gene in Toxoplasma gondii

Published on: June 22, 2017

CRISPR Gene Editing Tool for MicroRNA Cluster Network Analysis

CRISPR Gene Editing Tool for MicroRNA Cluster Network Analysis

Published on: April 25, 2022

相关概念视频

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

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...

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...