The transition from genomics to phenomics in personalized population health

JT Yurkovich, SJ Evans, N Rappaport, JL Boore… - Nature Reviews …, 2024 - nature.com
Modern health care faces several serious challenges, including an ageing population and
its inherent burden of chronic diseases, rising costs and marginal quality metrics. By …

Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank

M Garg, M Karpinski, D Matelska, L Middleton… - Nature Genetics, 2024 - nature.com
The emergence of biobank-level datasets offers new opportunities to discover novel
biomarkers and develop predictive algorithms for human disease. Here, we present an …

Plasma proteomic profiles predict future dementia in healthy adults

Y Guo, J You, Y Zhang, WS Liu, YY Huang, YR Zhang… - Nature Aging, 2024 - nature.com
The advent of proteomics offers an unprecedented opportunity to predict dementia onset.
We examined this in data from 52,645 adults without dementia in the UK Biobank, with 1,417 …

Aggregation-Induced Emission Luminogen: Role in Biopsy for Precision Medicine

Y Duo, L Han, Y Yang, Z Wang, L Wang… - Chemical …, 2024 - ACS Publications
Biopsy, including tissue and liquid biopsy, offers comprehensive and real-time physiological
and pathological information for disease detection, diagnosis, and monitoring. Fluorescent …

Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences

OS Burren, RS Dhindsa, SVV Deevi, S Wen, A Nag… - Nature Genetics, 2024 - nature.com
Telomeres protect chromosome ends from damage and their length is linked with human
disease and aging. We developed a joint telomere length metric, combining quantitative …

Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance

QS Wang, T Hasegawa, H Namkoong, R Saiki… - Nature Genetics, 2024 - nature.com
Studying the genetic regulation of protein expression (through protein quantitative trait loci
(pQTLs)) offers a deeper understanding of regulatory variants uncharacterized by mRNA …

Whole-genome sequencing of half-a-million UK Biobank participants

S Li, KJ Carss, BV Halldorsson, A Cortes… - medRxiv, 2023 - medrxiv.org
Paragraph Whole-genome sequencing (WGS) provides a comprehensive view of the
genome, enabling detection of coding and non-coding genetic variation, and surveying …

Identifying proteomic risk factors for cancer using prospective and exome analyses of 1463 circulating proteins and risk of 19 cancers in the UK Biobank

K Papier, JR Atkins, TYN Tong, K Gaitskell… - Nature …, 2024 - nature.com
The availability of protein measurements and whole exome sequence data in the UK
Biobank enables investigation of potential observational and genetic protein-cancer risk …

Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

Y Zhao, M Chukanova, KA Kentistou… - Nature Genetics, 2024 - nature.com
Obesity is a major risk factor for many common diseases and has a substantial heritable
component. To identify new genetic determinants, we performed exome-sequence analyses …

The Circulating Proteome─ Technological Developments, Current Challenges, and Future Trends

PE Geyer, D Hornburg, M Pernemalm… - Journal of Proteome …, 2024 - ACS Publications
Recent improvements in proteomics technologies have fundamentally altered our capacities
to characterize human biology. There is an ever-growing interest in using these novel …