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.

项目概要 人类变异的广度和复杂性是我们这个时代最大的科学和医学挑战之一。 现代测序技术现在可以对种系和体细胞改变进行详细测量，许多 其中是人类疾病的基础。变体可以通过其在基因组 DNA 中的位置、进化、 理化、结构和功能特性，以及它们对 RNA 转录本、蛋白质、 分子相互作用。最终，我们必须找到新的方法来定量衡量它们对人类的影响 细胞、组织和生命。 为了在 2022 年应对这一根本性挑战，第五次人类遗传变异和疾病 Gordon 研究会议将汇集来自系统生物学、基因组学、 计算机科学、分子生物学、医学遗传学家、群体遗传学家、数据科学、生物物理学等 健康信息学专家将在 6 天的时间内讨论遗传和基因组变异的解释 DNA、RNA 和蛋白质水平。然而，这个版本将显着扩大其临床范围，以确保 会议的及时性和重要性。我们现在将技术重点放在典型的各种变化上 这次会议讨论了它们对免疫系统、新冠病毒大流行、与免疫系统的相互作用的明确影响 微生物组、增殖性疾病和早发性疾病，其中每一种情况都在 他们自己的专门会议。每场会议都将邀请来自算法进步前沿的演讲者 分析大数据，并解释这些特定临床领域的结果。这将反映出日益增加的 现在正在收集高通量变异数据，基础计算生物学的转化相关性 大规模地覆盖大量人类群体（例如我们所有人，英国生物银行）并引发了一个范式 这些临床主题中的每一个都发生了转变。这种新设计将系统地实现及时和关键的评估 每个疾病领域的变异解释的最新技术。我们的会议将以独特的方式举行 比较和对比针对不同患者情况的不同变体的不同方法。这将把 参与者处于特权地位，可以重新评估该领域的现状并指导这一不断扩大的未来 基于对证据的仔细阐述和批判性讨论的领域。