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Integrated analyses reveal that multiomics captured the heterogeneity of metabolic states accompanying obesity and changes in metabolic health in response to lifestyle intervention that are not apparent in body mass index measurements.
Integrative approaches continue to improve diagnostic accuracy for pediatric brain cancers, but much more is needed from researchers, governments and regulators if precision medicine with curative treatments are to become a reality.
Using a systems-level, multi-omics approach, we reveal several genes associated with arachnoid cysts and identify four phenotypic subtypes of arachnoid cysts, the severity of which correlates with the presence of protein-damaging de novo variants. All candidate genes are expressed in the developing brain and encode molecules implicated in chromatin modification or transcriptional regulation.
A new multilevel clustering approach applied retrospectively to 13,000 transcriptomes of different tumors reveals a new diagnostic classification of childhood cancers, in some cases allowing a better prediction of disease outcomes.
Cardiometabolic health is tightly linked to diet and the gut microbiome. This Review explains how meta-omics technologies are revealing the intricate links between them and discusses the most promising paths to clinical translation.
Using observational data from over 200,000 participants with up to 32 years of follow-up, we compared the strengths of eight healthy dietary patterns for general health. We found that diets that lowered hyperinsulinemia, chronic inflammation and diabetes risk may offer the greatest protection against chronic diseases.
The NEOSTAR trial is a key step on route to better outcomes; but the best approach is likely to be an individualized one, reflecting the many factors that influence treatment response.
We developed a compact database, called a ‘Rareservoir’, that contains the rare variant genotypes and phenotypes of 34,523 patients with a rare disease and 43,016 unaffected relatives. We inferred 260 genetic associations with rare disease classes, of which 19 were previously unidentified, and validated etiological roles for ERG, PMEPA1 and GPR156.
For patients with advanced, resectable melanoma, treatment with pembrolizumab before as well as after surgery led to improved outcomes — without additional toxicity.
For people taking statins, inflammation contributes more to cardiovascular disease risk than residual cholesterol does — and could be targeted with adjunct therapy.
A flexible and compact database containing rare variant genotypes and phenotypes of 77,539 participants sequenced by the 100,000 Genomes Project enables the identification of new disease-causing genes.
A machine learning model that uses longitudinal ctDNA metrics robustly predicts survival in two phase 3 trials of patients with metastatic NSCLC, which may improve therapy selection and risk stratification.