Annabel C Beichman,Luke Zhu,Kelley Harris
Annabel C Beichman
Novel sequencing technologies are making it increasingly possible to measure the mutation rates of somatic cell lineages. Accurate germline mutation rate measurement technologies have also been available for a decade, making it possible to ...
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms [0.03%]
通过ClinGen数据平台生成临床级别的基因疾病有效性分类
Matt W Wright,Courtney L Thaxton,Tristan Nelson et al.
Matt W Wright et al.
Clinical genetic laboratories must have access to clinically validated biomedical data for precision medicine. A lack of accessibility, normalized structure, and consistency in evaluation complicates interpretation of disease causality, res...
Bringing the Genomic Revolution to Comparative Oncology: Human and Dog Cancers [0.03%]
基因组革命与比较肿瘤学：人类和狗的癌症
James A Cahill,Leslie A Smith,Soumya Gottipati et al.
James A Cahill et al.
Dogs are humanity's oldest friend, the first species we domesticated 20,000-40,000 years ago. In this unequaled collaboration, dogs have inadvertently but serendipitously been molded into a potent human cancer model. Unlike many common mode...
Human Genetics and Genomics for Drug Target Identification and Prioritization: Open Targets' Perspective [0.03%]
药物靶点的鉴定与优选：Open Targets的视角（人类基因组及遗传学角度）
Ellen M McDonagh,Gosia Trynka,Mark McCarthy et al.
Ellen M McDonagh et al.
Open Targets, a consortium among academic and industry partners, focuses on using human genetics and genomics to provide insights to key questions that build therapeutic hypotheses. Large-scale experiments generate foundational data, and op...
AlphaFold and Protein Folding: Not Dead Yet! The Frontier Is Conformational Ensembles [0.03%]
AlphaFold与蛋白质折叠：远未终结！前沿是构象系综
Gregory R Bowman
Gregory R Bowman
Like the black knight in the classic Monty Python movie, grand scientific challenges such as protein folding are hard to finish off. Notably, AlphaFold is revolutionizing structural biology by bringing highly accurate structure prediction t...
Biomedical Data Science, Artificial Intelligence, and Ethics: Navigating Challenges in the Face of Explosive Growth [0.03%]
生物医学数据科学、人工智能与伦理：应对爆炸性增长带来的挑战
Carole A Federico,Artem A Trotsyuk
Carole A Federico
Advances in biomedical data science and artificial intelligence (AI) are profoundly changing the landscape of healthcare. This article reviews the ethical issues that arise with the development of AI technologies, including threats to priva...
Computational Approaches to Drug Repurposing: Methods, Challenges, and Opportunities [0.03%]
药物再定位的计算方法：方法、挑战及机遇
Henry C Cousins,Gowri Nayar,Russ B Altman
Henry C Cousins
Drug repurposing refers to the inference of therapeutic relationships between a clinical indication and existing compounds. As an emerging paradigm in drug development, drug repurposing enables more efficient treatment of rare diseases, str...
Identification of Splice Variants and Isoforms in Transcriptomics and Proteomics [0.03%]
转录组学和蛋白质组学中拼接变异体和异构体的鉴定
Taojunfeng Su,Michael A R Hollas,Ryan T Fellers et al.
Taojunfeng Su et al.
Alternative splicing is pivotal to the regulation of gene expression and protein diversity in eukaryotic cells. The detection of alternative splicing events requires specific omics technologies. Although short-read RNA sequencing has succes...
The All of Us Data and Research Center: Creating a Secure, Scalable, and Sustainable Ecosystem for Biomedical Research [0.03%]
全民医学研究数据中心：打造安全、可拓展和可持续的生物医学研究生态系统
Kelsey R Mayo,Melissa A Basford,Robert J Carroll et al.
Kelsey R Mayo et al.
The All of Us Research Program's Data and Research Center (DRC) was established to help acquire, curate, and provide access to one of the world's largest and most diverse datasets for precision medicine research. Already, over 500,000 parti...
Morten Nielsen,Massimo Andreatta,Bjoern Peters et al.
Morten Nielsen et al.
Immunoinformatics is a discipline that applies methods of computer science to study and model the immune system. A fundamental question addressed by immunoinformatics is how to understand the rules of antigen presentation by MHC molecules t...