2022 Human Genetic Variation and Disease GRC and GRS

项目摘要 人类变异的广度和复杂性是我们这个时代面临的重大科学和医学挑战之一。 现代测序技术现在能够对生殖系和体细胞变化进行详细测量，许多 这是人类疾病的基础。变异可以通过它们在基因组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。归根结底，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年应对这一根本挑战，这第五个人类基因变异和疾病 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、种群遗传学家、数据科学、生物物理学和 卫生信息学专家将在为期6天的会议上讨论对遗传和基因组变异的解释 DNA、RNA和蛋白质水平。然而，这一版本将显著扩大其临床范围，以确保 会议的及时性和重要性。我们现在将把技术重点放在典型的不同变体上 这次会议讨论了它们对免疫系统的明确影响，COVID大流行，与 微生物组、增殖性疾病和早发性疾病，其中每种情况都在 他们自己的专属课程。每一次会议都将有演讲者站在算法进步的第一线 分析大数据，这些人也解释他们在这些特定临床领域的结果。这将反映出不断增加的 基础计算生物学的翻译相关性现在正在收集高吞吐量的变异数据 在庞大的人类队列中(例如，我们所有人，英国生物库)的大规模传播，并导致了一种范式 这些临床主题中的每一个都发生了转变。这一新设计将系统地实现及时和关键的评估 在每个疾病领域进行变异解释的最新技术。我们的会议将是独一无二的 比较和对比在不同患者情况下处理不同变种的不同方法。这会让你 处于有利地位的参与者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实地考察。

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.