Precision medicine
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Predicting the Future — Big Data, Machine Learning, and Clinical Medicine Open
The algorithms of machine learning, which can sift through vast numbers of variables looking for combinations that reliably predict outcomes, will improve prognosis, displace much of the work of radiologists and anatomical pathologists, an…
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DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants Open
The information about the genetic basis of human diseases lies at the heart of precision medicine and drug discovery. However, to realize its full potential to support these goals, several problems, such as fragmentation, heterogeneity, av…
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The DisGeNET knowledge platform for disease genomics: 2019 update Open
One of the most pressing challenges in genomic medicine is to understand the role played by genetic variation in health and disease. Thanks to the exploration of genomic variants at large scale, hundreds of thousands of disease-associated …
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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program Open
The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of improving diagnosis, treatment and prevention of these d…
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Management of glioblastoma: State of the art and future directions Open
Glioblastoma is the most common malignant primary brain tumor. Overall, the prognosis for patients with this disease is poor, with a median survival of <2 years. There is a slight predominance in males, and incidence increases with age. Th…
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AACR Project GENIE: Powering Precision Medicine through an International Consortium Open
The AACR Project GENIE is an international data-sharing consortium focused on generating an evidence base for precision cancer medicine by integrating clinical-grade cancer genomic data with clinical outcome data for tens of thousands of c…
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Artificial intelligence in cancer imaging: Clinical challenges and applications Open
Judgement, as one of the core tenets of medicine, relies upon the integration of multilayered data with nuanced decision making. Cancer offers a unique context for medical decisions given not only its variegated forms with evolution of dis…
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Precision Medicine, AI, and the Future of Personalized Health Care Open
The convergence of artificial intelligence (AI) and precision medicine promises to revolutionize health care. Precision medicine methods identify phenotypes of patients with less‐common responses to treatment or unique healthcare needs. AI…
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Epithelial ovarian cancer: Evolution of management in the era of precision medicine Open
Ovarian cancer is the second most common cause of gynecologic cancer death in women around the world. The outcomes are complicated, because the disease is often diagnosed late and composed of several subtypes with distinct biological and m…
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Human organs-on-chips for disease modelling, drug development and personalized medicine Open
The failure of animal models to predict therapeutic responses in humans is a major problem that also brings into question their use for basic research. Organ-on-a-chip (organ chip) microfluidic devices lined with living cells cultured unde…
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Applications and limitations of radiomics Open
Radiomics is an emerging field in quantitative imaging that uses advanced imaging features to objectively and quantitatively describe tumour phenotypes. Radiomic features have recently drawn considerable interest due to its potential predi…
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Pan-cancer whole-genome analyses of metastatic solid tumours Open
Metastatic cancer is a major cause of death and is associated with poor treatment efficacy. A better understanding of the characteristics of late-stage cancer is required to help adapt personalized treatments, reduce overtreatment and impr…
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Artificial Intelligence in Cardiology Open
Artificial intelligence and machine learning are poised to influence nearly every aspect of the human condition, and cardiology is not an exception to this trend. This paper provides a guide for clinicians on relevant aspects of artificial…
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Organoid Profiling Identifies Common Responders to Chemotherapy in Pancreatic Cancer Open
Pancreatic cancer is the most lethal common solid malignancy. Systemic therapies are often ineffective, and predictive biomarkers to guide treatment are urgently needed. We generated a pancreatic cancer patient–derived organoid (PDO) libra…
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Early Detection of Molecular Residual Disease in Localized Lung Cancer by Circulating Tumor DNA Profiling Open
Identifying molecular residual disease (MRD) after treatment of localized lung cancer could facilitate early intervention and personalization of adjuvant therapies. Here, we apply cancer personalized profiling by deep sequencing (CAPP-seq)…
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Treatable traits: toward precision medicine of chronic airway diseases Open
Asthma and chronic obstructive pulmonary disease (COPD) are two prevalent chronic airway diseases that have a high personal and social impact. They likely represent a continuum of different diseases that may share biological mechanisms ( i…
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Next-Generation Sequencing Technology: Current Trends and Advancements Open
The advent of next-generation sequencing (NGS) has brought about a paradigm shift in genomics research, offering unparalleled capabilities for analyzing DNA and RNA molecules in a high-throughput and cost-effective manner. This transformat…
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The Applications of Radiomics in Precision Diagnosis and Treatment of Oncology: Opportunities and Challenges Open
Medical imaging can assess the tumor and its environment in their entirety, which makes it suitable for monitoring the temporal and spatial characteristics of the tumor. Progress in computational methods, especially in artificial intellige…
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Personalized <i>In Vitro</i> and <i>In Vivo</i> Cancer Models to Guide Precision Medicine Open
Precision medicine is an approach that takes into account the influence of individuals' genes, environment, and lifestyle exposures to tailor interventions. Here, we describe the development of a robust precision cancer care platform that …
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Multimodal biomedical AI Open
The increasing availability of biomedical data from large biobanks, electronic health records, medical imaging, wearable and ambient biosensors, and the lower cost of genome and microbiome sequencing have set the stage for the development …
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Artificial intelligence with multi-functional machine learning platform development for better healthcare and precision medicine Open
Precision medicine is one of the recent and powerful developments in medical care, which has the potential to improve the traditional symptom-driven practice of medicine, allowing earlier interventions using advanced diagnostics and tailor…
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<span>eD</span>octor: machine learning and the future of medicine Open
Machine learning ( ML ) is a burgeoning field of medicine with huge resources being applied to fuse computer science and statistics to medical problems. Proponents of ML extol its ability to deal with large, complex and disparate data, oft…
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Tumor Mutational Burden as a Predictive Biomarker in Solid Tumors Open
Tumor mutational burden (TMB), defined as the number of somatic mutations per megabase of interrogated genomic sequence, varies across malignancies. Panel sequencing–based estimates of TMB have largely replaced whole-exome sequencing–deriv…
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The microbiome in cancer immunotherapy: Diagnostic tools and therapeutic strategies Open
The fine line between human health and disease can be driven by the interplay between host and microbial factors. This “metagenome” regulates cancer initiation, progression, and response to therapies. Besides the capacity of distinct micro…
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The ‘Digital Twin’ to enable the vision of precision cardiology Open
Providing therapies tailored to each patient is the vision of precision medicine, enabled by the increasing ability to capture extensive data about individual patients. In this position paper, we argue that the second enabling pillar towar…
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More Is Better: Recent Progress in Multi-Omics Data Integration Methods Open
Multi-omics data integration is one of the major challenges in the era of precision medicine. Considerable work has been done with the advent of high-throughput studies, which have enabled the data access for downstream analyses. To improv…
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Molecular profiling of cancer patients enables personalized combination therapy: the I-PREDICT study Open
Cancer treatments have evolved from indiscriminate cytotoxic agents to selective genome- and immune-targeted drugs that have transformed the outcomes of some malignancies1. Tumor complexity and heterogeneity suggest that the 'precision med…
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Artificial Intelligence in Cancer Research and Precision Medicine Open
Artificial intelligence (AI) is rapidly reshaping cancer research and personalized clinical care. Availability of high-dimensionality datasets coupled with advances in high-performance computing, as well as innovative deep learning archite…
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The growing role of precision and personalized medicine for cancer treatment Open
Cancer is a devastating disease that takes the lives of hundreds of thousands of people every year. Due to disease heterogeneity, standard treatments, such as chemotherapy or radiation, are effective in only a subset of the patient populat…
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New Horizons for Precision Medicine in Biliary Tract Cancers Open
Biliary tract cancers (BTC), including cholangiocarcinoma and gallbladder cancer, are poor-prognosis and low-incidence cancers, although the incidence of intrahepatic cholangiocarcinoma is rising. A minority of patients present with resect…