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.

I.本核心的目标和背景 在人类中进行遗传学研究和进行相关的定量表型分析是一项重要的研究。 多学科和多学科的任务。然而，遗传学的所有后续效用和成功的关键 调查取决于能否成功地履行这些职能。因此，实现这一点 有效地涉及到几个复杂任务的无缝集成，其中每一个都是必不可少的，以获得 可用于为遗传研究提供生物学信息的信息。它涉及到一种基因上的 信息丰富的人口与一个专门的多学科团队相结合，我们一直在 在过去的五年里，我们有幸聚集在我们的中心。所需的学科包括以下方面的整合： 定量人类表型分析、数据库管理、遗传分析、生物信息学和生物统计学 在过去的资助周期中，遗传学是我们团队成功的关键。