Epi25 Clinical Phenotyping R03

Epi25 临床表型 R03

• 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
• 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

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 临床遗传学数据表明，特定类别的癫痫有遗传贡献者， 类别之间的一些重叠。Epi 25合作组织由来自世界各地的40多个群体组成， 在全世界范围内对多达25,000个基因组或外显子组进行测序。截至2017年，该合作已 测序了13，000多个外显子组，并收集了8，000多个病例的临床数据。这 项目将完成Epi 25采集中每个样本的临床数据收集和审查， 促进将基因组和临床发现转化为对患者的更好护理。临床和 Epi 25的基因组数据将成为全球资源，在未来几年与研究界共享。 Epi 25的管理结构、成员和其他信息可在www.epi-25.org上查阅。 在本项目中，临床数据由贡献者输入Red Cap表格或直接上传到Epi 25 数据库然后通过计算机算法检查临床数据，该算法寻找关键的合格标准， 每个参与者。将错误和缺失数据发送给表型分析协调员进行审查和解决， 贡献网站的帮助。