伊拉克β-地中海贫血患者遗传评分系统预测表型数据集

数据集获取（Figshare）

• 源站标题：A Population-Oriented Genetic Scoring System to Predict Phenotype: A Pathway to Personalized Medicine in Iraqis With β-Thalassemia
• DOI：10.6084/m9.figshare.25272915.v1
• 发布日期：2024-02-23
• 文件数：3 个
• 文件总体积：39.90 KB
• 源站页面：https://tandf.figshare.com/articles/dataset/A_Population-Oriented_Genetic_Scoring_System_to_Predict_Phenotype_A_Pathway_to_Personalized_Medicine_in_Iraqis_With_-Thalassemia/25272915

命令行下载

curl -L -o "ihem_a_2319733_sm2998.docx" "https://ndownloader.figshare.com/files/44649471"
curl -L -o "ihem_a_2319733_sm2953.docx" "https://ndownloader.figshare.com/files/44649474"
curl -L -o "ihem_a_2319733_sm2916.docx" "https://ndownloader.figshare.com/files/44649477"

文件清单

• ihem_a_2319733_sm2998.docx（13.72 KB）
• ihem_a_2319733_sm2953.docx（13.45 KB）
• ihem_a_2319733_sm2916.docx（12.74 KB）

文件总体积 39.90 KB（源站 API 实测）。

数据加载示例（图像类）

from PIL import Image
import glob, os

files = (glob.glob(os.path.join(path, "**", "*.png"), recursive=True)
       + glob.glob(os.path.join(path, "**", "*.jpg"), recursive=True)
       + glob.glob(os.path.join(path, "**", "*.tif"), recursive=True))
print("图像文件数:", len(files))
img = Image.open(files[0]); print("尺寸/模式:", img.size, img.mode)

# torchvision Dataset 方式:
# from torchvision import datasets
# ds = datasets.ImageFolder(path)  # 要求 子目录=类别

目录组织与标注格式以源站说明和下载后实际文件为准。

数据说明

To assess the roles of genetic modifiers in Iraqi β-thalassemia patients, and determine whether a genotype-based scoring system could be used to predict phenotype, a total of 224 Iraqi patients with molecularly characterized homozygous or compound heterozygous β-thalassemia were further investigated for α-thalassemia deletions as well as five polymorphisms namely: rs7482144 C > T at HBG2, rs1427407 G > T and rs10189857 A > G at BCL11A, and rs28384513 A > C and rs9399137 T > C at HMIP. The enrolled patients had a median age of 14 years, with 96 males and 128 females. They included 144 thalassemia major, and 80 thalassemia intermedia patients. Multivariate logistic regression analysis revealed that a model including sex and four of these genetic modifiers, namely: β+ alleles, HBG2 rs7482144, α-thalassemia deletions, and BCL11A rs1427407 could significantly predict phenotype (major versus intermedia) with an overall accuracy of 83.9%. Furthermore, a log odds genetic score based on these significant predictors had a highly significant area under curve of 0.917 (95% CI 0.882–0.953). This study underscores the notion that genetic scoring systems should be tailored to populations in question, since genetic modifiers (and/or their relative weight) vary between populations. The population-oriented genetic scoring system created by the current study to predict β-thalassemia phenotype among Iraqis may pave the way to personalized medicine in this patient’s group.

许可

CC BY 4.0

引用

学术使用请引用 DOI 10.6084/m9.figshare.25272915.v1（source: https://tandf.figshare.com/articles/dataset/A_Population-Oriented_Genetic_Scoring_System_to_Predict_Phenotype_A_Pathway_to_Personalized_Medicine_in_Iraqis_With_-Thalassemia/25272915）。