Human Genotyping and Phenotyping Core

人类基因分型和表型核心

• 批准号: 7950542
• 负责人: William Francis Crowley
• 金额: $ 48.58万
• 依托单位: MASSACHUSETTS GENERAL HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-04-01 至 2011-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7950542
• 关键词: Aging; Biochemical; Bioinformatics; Biology; Boston; Categories; Cell Line; Clinical; Collaborations; Complex; Data Base Management; Discipline; Disease; Endocrine; England; FGFR1 gene; Family; France; GNRHR gene; Genes; Genetic; Genetic Screening; Genomics; Genotype; Grant; Human; Individual; Inheritance Patterns; Institutes; International; Investigation; KISS1 gene; KISS1R gene; Laboratories; Letters; Light; Link; Medical; Molecular Genetics; Neurodegenerative Disorders; Neurosecretory Systems; Patient Recruitments; Patients; Pattern; Pediatric Hospitals; Phenotype; Population; Proteomics; Reproduction; Research; Research Personnel; Sampling; Services; System; Update; case-based; gene discovery; genetic analysis; male; member; multidisciplinary; repository; segregation; success

I. Objectives and Background of this Core Conducting genetic investigations and performing associated quantitative phenotyping in humans is a demanding and multidisciplinary task. However, the key to all subsequent utility and success of genetic inquiries hinge upon the successful accomplishment of these functions. Therefore, accomplishing this effectively involves the seamless integration of several complex tasks, each of which is essential to obtaining information that can be used to inform the biology of genetic investigations. It involves access to a genetically informative population in combination with a dedicated multidisciplinary team, both of which we have been fortunate to assemble in our Center over the past 5 years. The disciplines required involve the integration of quantitative human phenotyping, database management, genetic analyses, bioinformatics, and biostatistical genetics that have been key to our team's success in the past grant cycle.

一、本核心的目标和背景 在人类中进行基因研究并进行相关的定量表型分析是一项 艰巨且多学科的任务。然而，遗传的所有后续效用和成功的关键 调查取决于这些职能的成功履行。因此，实现这一点 有效地涉及多个复杂任务的无缝集成，其中每个任务对于获得 可用于告知遗传研究生物学的信息。它涉及获得基因 信息丰富的人群与专门的多学科团队相结合，我们一直在 过去五年有幸相聚在我们中心。所需的学科涉及整合 定量人类表型、数据库管理、遗传分析、生物信息学和生物统计学 遗传学是我们团队在过去的资助周期中取得成功的关键。