Epi25 Clinical Phenotyping R03

Epi25 临床表型 R03

基本信息

批准号：
9753389
负责人：
DANIEL H LOWENSTEIN
金额：
$ 6.09万
依托单位：
UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
依托单位国家：
美国
项目类别：
财政年份：
2018
资助国家：
美国
起止时间：
2018-08-01 至 2020-07-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9753389
关键词：
Absence Epilepsy Artificial Intelligence Autosomal Dominant Partial Epilepsy with Auditory Features Autosomal dominant nocturnal frontal lobe epilepsy Categories Clinical Clinical Data Collection Communities Computational algorithm Data Data Discovery Databases Eligibility Determination Epilepsy Ethnic Origin Family Genes Genetic Genetic Databases Genetic Determinism Genetic Translation Genetic Variation Genome Genomics Genotype Hand International Juvenile Myoclonic Epilepsy Major Depressive Disorder Medical Genetics Methods Neurodevelopmental Disorder Partial Epilepsies Participant Patient Care Patients Pattern Phenotype Research Resource Sharing Resources Role Sampling Schizophrenia Site Standardization Structure Syndrome Temporal Lobe Epilepsy Testing Translations Twin Studies Variant autism spectrum disorder clinical phenotype cohort dravet syndrome exome genomic data improved informatics tool phenotypic data rare variant sample collection

项目摘要

PROJECT SUMMARY Clinical genetic data suggests that specific categories of epilepsy have genetic contributors, and there may be some overlap between categories. The Epi25 Collaborative was formed among more than 40 cohorts from around the world to sequence as many as 25,000 genomes or exomes. As of 2017, the collaborative has sequenced more than 13,000 exomes and clinical data has been collected for more than 8,000 cases. This project will complete the collection and review of the clinical data for each sample in the Epi25 collection to facilitate the translation of genomic and clinical discoveries into improved care for patients. The clinical and genomic data from Epi25 will be a global resource, shared with the research community for years to come. Epi25's governance structure, membership, and other information are available online at www.epi-25.org. In this project, clinical data is entered by contributors into Red Cap forms or uploaded directly into the Epi25 database. The clinical data is then checked by a computer algorithm that looks for key eligibility criteria for each participant. Errors and missing data are sent to the Phenotyping Coordinator to review and resolve, with the help of the contributing site.

项目摘要临床遗传数据表明，癫痫的特定类别具有遗传因素，并且可能有类别之间有些重叠。 EPI25合作型是在40多个队列中组成的在世界各地，要对多达25,000个基因组或外体进行序列。截至2017年，合作测序已有13,000多个外来，并收集了8,000多例临床数据。这项目将完成EPI25集合中每个样本的临床数据的收集和审查促进将基因组和临床发现转化为改善患者的护理。临床和来自EPI25的基因组数据将是一种全球资源，在未来几年中与研究界共享。 EPI25的治理结构，会员和其他信息可在线访问www.epi-25.org。在该项目，贡献者将临床数据输入红色盖形式或直接上传到EPI25 数据库。然后，通过计算机算法检查临床数据，该算法寻找关键资格标准每个参与者。错误和丢失的数据被发送到表型协调员，以审查和解决，并通过贡献网站的帮助。