Name: 儿童持续性血小板减少症单基因疾病识别与适当治疗选择的综合遗传分析
Creator: 千方医数集科研发现管道
License: CC BY 4.0

基本信息

模态

基因组

大小

0.000216709 GB

许可

CC BY 4.0

创建/更新时间

2026-10-10

版本

v1

资源简介

儿童持续性血小板减少症单基因疾病识别与适当治疗选择的综合遗传分析

【一句话概览】

本数据集是 figshare 公开的组学数据集，收录 2 个文件、合计 216.71 KB，主题涵盖 Bone marrow failure syndrome、immune thrombocytopenia、inherited inherited thrombocytopenia、whole-exome sequencing，可用于生物标志物发现与分子分型研究，CC BY 4.0 许可开放获取。

【数据集背景】

本数据集源站标题为《Comprehensive genetic analysis for identification of monogenic disorders and selection of appropriate treatments in pediatric patients with persistent thrombocytopenia》。配套论文《Comprehensive genetic analysis for identification of monogenic disorders and selection of appropriate treatments in pediatric patients with persistent thrombocytopenia》发表于 Pediatric Hematology and Oncology（2024），DOI：10.1080/08880018.2024.2395358。项目资助方：This work was supported by grants-in-aid from the Ministry of Education, Culture, Sports, Science and Technology of Japan under Grants [number 22K15915 to SK, and number 23K07286 to YS], Japanese Society of Hematology Research Grant to YS, and funding from Astellas Pharma Inc.。源站首次发布：2024-09-25。

【数据内容】

源站原始描述：Persistent thrombocytopenia is caused by various diseases, including immune thrombocytopenia, inherited thrombocytopenia, and inherited bone marrow failure syndromes. Considering the large number of genes responsible for inherited disorders, comprehensive genetic analysis is required to diagnose monogenic disorders. In this study, we enrolled 53 pediatric patients with persistent thrombocytopenia exhibiting visually small or normal-sized platelets. We performed whole-exome sequencing, including…

中文译文（机器翻译，仅供快速理解，请以原文为准）：持续性血小板减少症由多种疾病引起，包括免疫性血小板减少症、遗传性血小板减少症和遗传性骨髓衰竭综合征。考虑到导致遗传性疾病的基因数量众多，诊断单基因病需要进行全面的遗传学分析。在本研究中，我们纳入了53例持续性血小板减少症儿科患者，其血小板在视觉上偏小或大小正常。我们进行了全外显子组测序，涵盖56个与遗传性血小板减少症相关的基因，并根据疾病类型评估了临床参数。在53例患者中，12例（22.6%）被诊断为单基因病。9例患者有血小板减少症家族史。分别在3例和6例患者中鉴定出遗传性血小板减少症相关基因的致病性变异或新变异。在6例患者中意外发现了与大型或巨型血小板相关的遗传性血小板减少症

【数据结构与技术规格】

文件数 2 个，合计 216.71 KB。ipho_a_2395358_sm7589.docx：application/vnd.openxmlformats-officedocument.wordprocessingml.document，197.21 KB。ipho_a_2395358_sm7587.docx：application/vnd.openxmlformats-officedocument.wordprocessingml.document，19.50 KB。数据集 DOI：10.6084/m9.figshare.27100438.v1。

【主题与分类】

源站学科分类：Genetics、Immunology、Biological Sciences not elsewhere classified、Mathematical Sciences not elsewhere classified、Cancer、Hematology。主题标签：Bone marrow failure syndrome、immune thrombocytopenia、inherited inherited thrombocytopenia、whole-exome sequencing。

【适用方向】

组学数据适用于生物标志物发现与分子分型相关建模研究。

【获取与许可】

源站页面：https://tandf.figshare.com/articles/dataset/Comprehensive_genetic_analysis_for_identification_of_monogenic_disorders_and_selection_of_appropriate_treatments_in_pediatric_patients_with_persistent_thrombocytopenia/27100438

使用许可：CC BY 4.0（https://creativecommons.org/licenses/by/4.0/）。

规范引用：Comprehensive genetic analysis for identification of monogenic disorders and selection of appropriate treatments in pediatric patients with persistent thrombocytopenia. Taylor & Francis. Sato, Daichi; Kirikae, Hinako; Nakano, Tomohiro; Katayama, Saori; Yaoita, Hisao; Takayama, Jun; et al

【使用注意】

· 源站最后修改于 2025-01-08，引用时请注意版本时效。

原始链接

https://figshare.com/articles/dataset/Comprehensive_genetic_analysis_for_identification_of_monogenic_disorders_and_selection_of_appropriate_treatments_in_pediatric_patients_with_persistent_thrombocytopenia/27100438

访问原始数据

官方服务

专家保障全链路合规授权与标注交付

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从合规授权、采集治理、专业标注到数据集交付，我们提供全链路闭环服务，让高质量临床数据即拿即用。

⚡️ 需要原始数据或标注支持？联系我们获取定制方案。

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下载信息

注册下载

需要注册 Kaggle 账号并登录后下载，适合需要跟踪下载记录和使用 API 的用户。

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公开下载

无需注册即可直接获取公开样本或文档，适合快速预览和评估数据集质量。

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公开数据集受托下载与技术交付服务。

提供高速下载与技术交付服务（收技术服务费，非数据销售）

暂未开放

当前数据集主要来源为 Kaggle 公开托管，完整影像包建议通过原始链接或 Kaggle API 获取。

使用方式

数据集获取（Figshare）

源站标题：Comprehensive genetic analysis for identification of monogenic disorders and selection of appropriate treatments in pediatric patients with persistent thrombocytopenia
DOI：10.6084/m9.figshare.27100438.v1
发布日期：2024-09-25
文件数：2 个
文件总体积：216.71 KB
源站页面：https://tandf.figshare.com/articles/dataset/Comprehensive_genetic_analysis_for_identification_of_monogenic_disorders_and_selection_of_appropriate_treatments_in_pediatric_patients_with_persistent_thrombocytopenia/27100438

命令行下载

curl -L -o "ipho_a_2395358_sm7589.docx" "https://ndownloader.figshare.com/files/49395067"
curl -L -o "ipho_a_2395358_sm7587.docx" "https://ndownloader.figshare.com/files/49395070"

文件清单

ipho_a_2395358_sm7589.docx（197.21 KB）
ipho_a_2395358_sm7587.docx（19.50 KB）

文件总体积 216.71 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

Persistent thrombocytopenia is caused by various diseases, including immune thrombocytopenia, inherited thrombocytopenia, and inherited bone marrow failure syndromes. Considering the large number of genes responsible for inherited disorders, comprehensive genetic analysis is required to diagnose monogenic disorders. In this study, we enrolled 53 pediatric patients with persistent thrombocytopenia exhibiting visually small or normal-sized platelets. We performed whole-exome sequencing, including 56 genes responsible for inherited thrombocytopenia, and evaluated clinical parameters according to disease type. Among 53 patients, 12 patients (22.6%) were diagnosed with monogenic disorders. Nine patients had a family history of thrombocytopenia. Pathogenic or novel variants of genes responsible for inherited thrombocytopenia were identified in three and six patients, respectively. The variants in genes for inherited thrombocytopenia with large or giant platelets were unexpectedly identified in six patients. Pathogenic variants in genes for inherited bone marrow failure syndromes with systemic features were identified in three patients with atypical symptoms. Since the definitive diagnostic methods for immune thrombocytopenia are limited, and a substantial number of patients with inherited thrombocytopenia are at a high risk of developing malignancies, comprehensive genetic analysis is indispensable for selecting appropriate therapies, avoidance of unnecessary treatments for immune thrombocytopenia, and long-term follow-up of patients with inherited thrombocytopenia.