The Human Variome Project: Collection of Human Gene Variation

人类变异组计划：人类基因变异的收集

• 批准号: 7166887
• 负责人: Michael Shaw WATSON
• 金额: $ 1.5万
• 依托单位: AMERICAN COLLEGE OF MEDICAL GENETICS
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-06-19 至 2007-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7166887
• 关键词: genetic polymorphism; genome; meeting /conference /symposium; travel

DESCRIPTION (provided by applicant): A meeting is being held to address a great need in the areas of single gene disorder, genetics of common disease (e.g. asthma, schizophrenia, etc) and drug side effects due to genetic differences between people. This need is being able to access up to date lists of human gene variation of one form or another as well as accurate and complete records of studies attempting to identify genes responsible for common disease and drug side effects. This would allow those responsible to deliver timely and accurate genetic healthcare and inform research in the area. Systematic and complete collection of this data and its expert curation, ready availability and searchability is not available at this time despite numerous and some large scale, well meaning and expertly curated and designed databases being available. This meeting will formally initiate the global "Human Variome Project" to correct this deficiency and prepare for a deluge of faults in genes causing single gene disorder, at least, of some 100 to 1000 faults in each of the 24,000 genes. The meeting brings together representatives relevant to the task and includes bioinformaticians, clinical geneticists, researchers, database curators, diagnostic laboratory heads, common disease variation experts, genome sequencers, funders as well as representatives of all the World Health Organization's (WHO) regions of the world. Eight sessions are essentially planned around these groupings. The meeting has the backing of the WHO, American College of Medical Genetics, OECD, European Commission and UNESCO. Representatives of these and other key organizations such as the American Society of Human Genetics will be attending. The meeting comprises a majority of invitees, who will develop a series of recommendations in the listed areas. This initiative emerged from the single gene disorder field but the common disease community is well represented and the meeting would not preclude an analogous meeting primarily of that community.

描述（申请人提供）：正在召开一次会议，以解决单基因疾病、常见疾病（例如哮喘、精神分裂症等）的遗传学以及由于人与人之间的遗传差异而导致的药物副作用等领域的巨大需求。这种需求是能够获取一种或另一种形式的人类基因变异的最新列表，以及试图识别导致常见疾病和药物副作用的基因的准确而完整的研究记录。这将使负责人能够提供及时、准确的遗传医疗保健并为该领域的研究提供信息。尽管存在大量且一些大规模、善意且经过专业策划和设计的数据库，但目前尚无法系统、完整地收集这些数据及其专家管理、现成的可用性和可搜索性。 这次会议将正式启动全球“人类变异组计划”，以纠正这一缺陷，并为导致单基因紊乱的大量基因缺陷做好准备，至少24,000个基因中每个基因有大约100到1000个缺陷。会议汇集了与该任务相关的代表，包括生物信息学家、临床遗传学家、研究人员、数据库管理员、诊断实验室负责人、常见疾病变异专家、基因组测序人员、资助者以及世界卫生组织 (WHO) 各地区的代表。世界。八场会议基本上是围绕这些分组计划的。此次会议得到了世界卫生组织、美国医学遗传学学院、经合组织、欧盟委员会和联合国教科文组织的支持。这些组织和其他重要组织（例如美国人类遗传学学会）的代表将出席。 会议由大多数受邀者组成，他们将在所列领域提出一系列建议。该倡议源于单基因疾病领域，但常见疾病群体具有很好的代表性，并且会议不会排除主要针对该群体举行类似会议。