2022 Human Genetic Variation and Disease GRC and GRS

2022人类遗传变异与疾病GRC和GRS

• 批准号: 10468402
• 负责人: OLIVIER LICHTARGE
• 金额: --
• 依托单位: GORDON RESEARCH CONFERENCES
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-05-16 至 2022-05-17
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10468402
• 关键词: Address; Adopted; Aging; Algorithms; Area; Big Data; Binding; Biophysics; Brain; COVID-19; COVID-19 pandemic; COVID-19 risk; Caliber; Cardiovascular system; Cells; Clinical; Collaborations; Complex; Computational Biology; Computational algorithm; Computer Analysis; Computerized Medical Record; DNA; Data; Data Science; Disabled Persons; Discipline; Disease; Ensure; Feedback; Fostering; Future; Generations; Genetic Diseases; Genetic Variation; Genome; Genomic DNA; Genomic medicine; Genomics; Health; Human; Human Genetics; Immune; Immune system; Inherited; International; Learning; Location; Malignant Neoplasms; Measurable; Measurement; Measures; Medical; Medicine; Metabolic; Methods; Minority Groups; Modernization; Molecular; Molecular Biology; Mutation; Nucleotides; Onset of illness; Participant; Pathology; Patients; Peer Review; Population; Positioning Attribute; Property; Proteins; Public Health Informatics; Publications; RNA; Research; Research Personnel; Science; Science, Technology, Engineering and Mathematics; Scientist; Single Nucleotide Polymorphism; Speed; Systems Biology; Technology; Therapeutic; Time; Tissues; Transcript; Twin Multiple Birth; Underrepresented Populations; Variant; Vision; Woman; base; biobank; career; clinical translation; cohort; computer science; design; early onset; genetic variant; genomic data; genomic variation; graduate student; human disease; insight; interest; meetings; microbiome; next generation; pandemic disease; personalized health care; posters; precision medicine; programs; symposium

Project Summary The breadth and complexity of human variation is one of the great scientific and medical challenges of our time. Modern sequencing technologies now enable detailed measurements of germline and somatic alterations, many of which underlie human disease. Variants can be characterized by their locations in genomic DNA, evolutionary, physicochemical, structural, and functional properties, as well as by their effects on RNA transcripts, proteins, molecular interactions. Ultimately, we must find new methods to measure quantitatively their impacts on human cells, tissues and lives. To address this fundamental challenge in 2022, this fifth Human Genetic Variation and Disease Gordon Research Conference will bring together leading researchers and clinicians from system biology, genomics, computer science, molecular biology, medical geneticist, population geneticist, data science, biophysics, and experts in health informatics who will discuss over 6 days the interpretation of genetic and genomic variants at the DNA, RNA and protein levels. This edition, however, will significantly expand its clinical scope to ensure the timeliness and importance of the meeting. We will now twin the technical focus on diverse variations typical of this meeting to their explicit impact on the immune system, the COVID pandemic, interactions with the microbiome, proliferative disease and early onset diseases, with each of these conditions being addressed in their own dedicated session. Each session will feature speakers at the frontlines of algorithmic advances to analyze big data who also interpret their results in these specific clinical areas. This will reflect the increasing translational relevance of basic computational biology now that high throughput variant data are being gathered on a massive scale across vast human cohorts (All of Us, the UK biobank, for example) and causing a paradigm shift in each of these clinical themes. This new design will systematically enable timely and critical assessment of the state of the art for variant interpretation in each disease area. Our meeting will be unique in the way it will compare and contrast diverse methods that address different variants in different patient contexts. This will put participants in a privileged position to reassess the current state of the field and guide the future of this expanding field based on careful exposition and critical discussion of evidence.

项目摘要 人类变异的广度和复杂性是我们这个时代的巨大科学和医学挑战之一。 现代测序技术现在可以详细测量种系和躯体改变，许多 其中的人类疾病是基础的。变体可以以它们在基因组DNA，进化中的位置为特征 物理化学，结构和功能特性，及其对RNA转录物，蛋白质的影响 分子相互作用。最终，我们必须找到新的方法来定量地衡量它们对人的影响 细胞，组织和生活。 为了应对2022年的这一基本挑战，这是第五个人类遗传变异和疾病戈登 研究会议将汇集来自系统生物学，基因组学的领先研究人员和临床医生， 计算机科学，分子生物学，医学遗传学家，人群遗传学家，数据科学，生物物理学和 健康信息学专家将在6天内讨论对遗传和基因组变异的解释 DNA，RNA和蛋白质水平。但是，此版本将大大扩大其临床范围，以确保 会议的及时性和重要性。现在，我们将对典型的各种变化的技术重点进行研究 这次会议对他们对免疫系统的明确影响，共同大流行，与 微生物组，增殖性疾病和早期疾病，每种疾病都在解决 他们自己的专门会议。每个会议都将在算法进步的前线中以演讲者为特色 分析大数据，这些数据也可以解释其在这些特定临床领域的结果。这将反映出不断增加的 基本计算生物学的翻译相关性现在收集了高吞吐量变体数据 在广阔的人类人群中（例如，我们所有人，英国生物库）的规模庞大，并引起范式 这些临床主题中的每一个。这种新设计将系统地实现及时和批判性评估 在每个疾病区域中用于变异解释的艺术状态。我们的会议将以它的方式独一无二 比较和对比的多种方法，这些方法在不同的患者环境下解决了不同的变体。这将提出 参与者处于特权位置，以重新评估该领域的现状并指导这种不断扩展的未来 基于仔细说明和对证据的批判性讨论的领域。