Genetics Core

遗传学核心

• 批准号: 10629118
• 负责人: Carlos Cruchaga
• 金额: $ 27.26万
• 依托单位: WASHINGTON UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-07-01 至 2028-06-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10629118
• 关键词: Back; Biocompatible Materials; Bioinformatics; Biological Assay; Biological databases; Blood specimen; Brain; Clinical; Clinical/Radiologic; Collection; Communication; Communities; Complex; DNA; DNA Library; Data; Data Analyses; Data Set; Data Storage and Retrieval; Databases; Dedications; Development; Ensure; Feedback; Functional disorder; Future; Genes; Genetic; Genetic Databases; Genetic Variation; Genomics; Genotype; Goals; Human Genetics; Human Resources; Image; Link; Measurement; Measures; Neurological outcome; Operative Surgical Procedures; Outcome; Participant; Pathologic; Patients; Phenotype; Policies; Procedures; Process; Qualifying; Quality Control; Quality of life; Radiogenomics; Radiology Specialty; Research; Research Personnel; Risk; Saliva; Secure; Specimen; Standardization; Statistical Data Interpretation; Syringomyelia; United States National Institutes of Health; Variant; Work; biomarker signature; data repository; data sharing; data submission; design; endophenotype; exome sequencing; experimental study; follow-up; genetic information; genetic variant; genome wide association study; genomic data; improved; malformation; meetings; next generation sequencing; novel; phenotypic data; precision medicine; repository; trait; user-friendly; web site; web-based tool

PROJECT SUMMARY Abstract: Genetics Core Understanding the genetic basis of CM is a major goal of these projects. Since obtaining DNA from patients and generating large amounts of sequence data will require extensive computational, bioinformatic and statistical analyses, we have established a Genetics Core to serve these critical needs. In addition, this Core will provide a major data-storage and data-sharing function for both this PPG and for investigators worldwide. This Core will have three Specific Aims. Aim 1 will focus on performing all the NGS and analysis for this PPG. The Core personnel will work closely with Project investigators in the design of proposed experiments, and will provide standard analysis for each project. Critical to this application, the Genetics Core personnel will also provide data interpretation and additional follow-up data-driven iterative analyses as are often required. This will permit major increase in efficiency by having computational biologists dedicated to this PPG; will offer an iterative approach since analysis of NGS data is complex and experiment driven and will provide consistency regarding analytic approaches. We will guarantee data storage, management and transfer of genetic data. All relevant genomic results (those found to be predictive of CM or CM-related traits) will be transferred to a database maintained by the Clinical core, where they will be incorporated with phenotype/outcome data to generate a user-friendly interface that enables the simultaneous queries by PPG investigators of phenotype sequence variants, as well as other genes involved in CM. Lastly we will be focused on providing local and public data sharing. We will ensure that raw and analyzed sequencing data are submitted to stable repositories that are accepted by the research community and in accordance with NIH Data Sharing policy. Therefore, a major goal of the Genetics Core will be to expand public access to the generated genomic data by interactive public web tools. Within the last year of the PPG we will generate a public web site with a user-friendly interface that enables queries on genetic and phenotypic datasets simultaneously. Ultimately the Genetics core represents a central conduit for genomic and bioinformatics flow of data of this PPG therefore contributing significantly to further understanding the genetics basis of CM.

项目总结