Human Genome Sequence Variation & the Inherited Basis

人类基因组序列变异

• 批准号: 6789541
• 负责人: David Altshuler
• 金额: $ 2万
• 依托单位: KEYSTONE SYMPOSIA
• 依托单位国家: 美国
• 财政年份: 2004
• 资助国家: 美国
• 起止时间: 2004-01-01 至 2004-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6789541
• 关键词: family genetics; genetic mapping; genetic models; genetic susceptibility; human population genetics; meeting /conference /symposium; molecular biology information system; travel

DESCRIPTION: (provided by applicant) Clinically important traits - such as susceptibility to disease and response to therapy - vary in the population and are influenced by inheritance. With the sequencing of the human genome and development of high throughput methods for studying genetic variation, there is great interest in trying to relate inherited differences in genome sequence to medically relevant outcomes. Developing methods to collect, analyze and apply such data to important human diseases is in its infancy, and yet of great potential. One challenge to progress is the requirement for insights and methods drawn from many fields, including clinical medicine, human genetics, epidemiology, genomics, statistical genetics, quantitative trait mapping, and population genetics. A major problem is that these disciplines generally operate in isolation, and thus there are few opportunities for investigators to interact together, compare perspectives, and develop novel approaches that synthesize these approaches. The goal of this Keystone Meeting is to bring together leading investigators from these different fields, and jointly to debate many of the important methodologic and scientific issues in the genetic analysis of human disease. Sessions will cover fundamental issues in human population genetics (patterns of genetic variation, determinants of mutation rates and recombination, and human population history) and application to disease gene mapping (technologies for genotyping and sequencing, statistical genetic analysis, epidemiological principles, impact of population demography, and lessons from successful projects). In addition, the conference will run concurrently with the "Natural Variation and Quantitative Genetics in Model Organisms" meeting, including joint sessions and meals. The explicit goal is to bring together investigators from each of the relevant communities (both in humans and model systems), to highlight the similarities and differences in perspectives, and to engage the problem of complex trait genetics and its application to human disease.

描述：（由申请人提供）临床上重要的特征 - 例如对疾病和对治疗的反应 - 人群有所不同，受遗传的影响。随着人类基因组的测序和研究遗传变异的高吞吐量方法的发展，试图将基因组序列的遗传差异与医学相关结果相关联引起了极大的兴趣。开发收集，分析和应用此类数据对重要人类疾病的方法是其起步阶段，但具有巨大的潜力。进步的一个挑战是需要从许多领域中提取的见解和方法的要求，包括临床医学，人类遗传学，流行病学，基因组学，统计遗传学，定量性状映射和种群遗传学。一个主要的问题是，这些学科通常是孤立地运作的，因此，研究人员几乎没有机会一起互动，比较观点并开发合成这些方法的新颖方法。 这次Keystone会议的目的是将这些不同领域的领先研究人员汇集在一起​​，并共同讨论人类疾病遗传分析中许多重要的方法论和科学问题。会议将涵盖人口遗传学（遗传变异的模式，突变率和重组的决定因素以及人口历史）以及对疾病基因映射的应用（基因分型和测序的技术，统计遗传分析，流行病学原理，人口影响的影响以及成功项目的经验教训））。此外，该会议将与“模型生物体中的自然变异和定量遗传学”会议同时举行，包括联合会议和餐点。明确的目标是将研究人员从每个相关社区（无论是人类和模型系统中）汇总，以突出观点上的相似性和差异，并参与复杂性状遗传学及其对人类疾病的应用。