打破罕见病研究的障碍：Rare - x开放科学数据挑战作为协作创新和社区伙伴关系的模式。

IF 3.3 Q2 GENETICS & HEREDITY

HGG Advances Pub Date : 2025-05-30 DOI:10.1016/j.xhgg.2025.100462

Karmen Trzupek, Ravi Bhargava, Cynthia Kuan, Fanny Sie, Vanessa Vogel-Farley, Katelyn Hobbs, Verena Chung, Maria Diaz, Charlene Son-Rigby, Joseph Geraci, Jacob Albrecht

{"title":"打破罕见病研究的障碍：Rare - x开放科学数据挑战作为协作创新和社区伙伴关系的模式。","authors":"Karmen Trzupek, Ravi Bhargava, Cynthia Kuan, Fanny Sie, Vanessa Vogel-Farley, Katelyn Hobbs, Verena Chung, Maria Diaz, Charlene Son-Rigby, Joseph Geraci, Jacob Albrecht","doi":"10.1016/j.xhgg.2025.100462","DOIUrl":null,"url":null,"abstract":"Trzupek et al. describe a rare disease Open Science Data Challenge, using data collected systematically on RARE-X across 27 neurodevelopmental disorders. Clinical diagnoses, symptoms, genetic data, and PROs were included. Researchers and statisticians generated solutions that identified previously underappreciated symptoms and used machine learning to test predictive models for diagnosis.","PeriodicalId":34530,"journal":{"name":"HGG Advances","volume":" ","pages":"100462"},"PeriodicalIF":3.3000,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Breaking barriers in rare disease research: The RARE-X Open Science Data Challenge as a model for collaborative innovation and community partnership.\",\"authors\":\"Karmen Trzupek, Ravi Bhargava, Cynthia Kuan, Fanny Sie, Vanessa Vogel-Farley, Katelyn Hobbs, Verena Chung, Maria Diaz, Charlene Son-Rigby, Joseph Geraci, Jacob Albrecht\",\"doi\":\"10.1016/j.xhgg.2025.100462\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Trzupek et al. describe a rare disease Open Science Data Challenge, using data collected systematically on RARE-X across 27 neurodevelopmental disorders. Clinical diagnoses, symptoms, genetic data, and PROs were included. Researchers and statisticians generated solutions that identified previously underappreciated symptoms and used machine learning to test predictive models for diagnosis.\",\"PeriodicalId\":34530,\"journal\":{\"name\":\"HGG Advances\",\"volume\":\" \",\"pages\":\"100462\"},\"PeriodicalIF\":3.3000,\"publicationDate\":\"2025-05-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"HGG Advances\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1016/j.xhgg.2025.100462\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"HGG Advances","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1016/j.xhgg.2025.100462","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

摘要

本文描述了一个罕见疾病开放科学数据挑战，使用系统收集的27种神经发育障碍的rare - x数据。包括临床诊断、症状、遗传数据和PROs。研究人员和统计学家制定了解决方案，确定了以前未被重视的症状，并使用ML测试预测模型进行诊断。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Breaking barriers in rare disease research: The RARE-X Open Science Data Challenge as a model for collaborative innovation and community partnership.

Trzupek et al. describe a rare disease Open Science Data Challenge, using data collected systematically on RARE-X across 27 neurodevelopmental disorders. Clinical diagnoses, symptoms, genetic data, and PROs were included. Researchers and statisticians generated solutions that identified previously underappreciated symptoms and used machine learning to test predictive models for diagnosis.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

HGG Advances Biochemistry, Genetics and Molecular Biology-Molecular Medicine

CiteScore

4.30

自引率

4.50%

发文量

审稿时长

14 weeks