Coding and regulatory variants are associated with serum protein levels and disease

V Emilsson, V Gudmundsdottir, A Gudjonsson… - Nature …, 2022 - nature.com
Circulating proteins can be used to diagnose and predict disease-related outcomes. A deep
serum proteome survey recently revealed close associations between serum protein …

A genome-wide association study of serum proteins reveals shared loci with common diseases

A Gudjonsson, V Gudmundsdottir, GT Axelsson… - Nature …, 2022 - nature.com
With the growing number of genetic association studies, the genotype-phenotype atlas has
become increasingly more complex, yet the functional consequences of most disease …

Whole-genome sequence association analysis of blood proteins in a longitudinal wellness cohort

W Zhong, A Gummesson, A Tebani, MJ Karlsson… - Genome Medicine, 2020 - Springer
Background The human plasma proteome is important for many biological processes and
targets for diagnostics and therapy. It is therefore of great interest to understand the interplay …

Genetics meets proteomics: perspectives for large population-based studies

K Suhre, MI McCarthy, JM Schwenk - Nature Reviews Genetics, 2021 - nature.com
Proteomic analysis of cells, tissues and body fluids has generated valuable insights into the
complex processes influencing human biology. Proteins represent intermediate phenotypes …

Co-regulatory networks of human serum proteins link genetics to disease

V Emilsson, M Ilkov, JR Lamb, N Finkel… - Science, 2018 - science.org
Proteins circulating in the blood are critical for age-related disease processes; however, the
serum proteome has remained largely unexplored. To this end, 4137 proteins covering most …

Whole-genome sequencing analysis of the cardiometabolic proteome

A Gilly, YC Park, G Png, A Barysenka, I Fischer… - Nature …, 2020 - nature.com
The human proteome is a crucial intermediate between complex diseases and their genetic
and environmental components, and an important source of drug development targets and …

Rare variant associations with plasma protein levels in the UK Biobank

RS Dhindsa, OS Burren, BB Sun, BP Prins, D Matelska… - Nature, 2023 - nature.com
Integrating human genomics and proteomics can help elucidate disease mechanisms,
identify clinical biomarkers and discover drug targets,,–. Because previous proteogenomic …

Blood is a window into health and disease

JT Yurkovich, L Hood - Clinical chemistry, 2019 - academic.oup.com
Human physiology is complex, with integrated networks of tissues and organs that
coordinate complex functions. Within this network of networks, the blood is a uniquely …

Facets of individual-specific health signatures determined from longitudinal plasma proteome profiling

T Dodig-Crnković, MG Hong, CE Thomas… - …, 2020 - thelancet.com
Background Precision medicine approaches aim to tackle diseases on an individual level
through molecular profiling. Despite the growing knowledge about diseases and the …

Large-scale integration of the plasma proteome with genetics and disease

E Ferkingstad, P Sulem, BA Atlason… - Nature …, 2021 - nature.com
The plasma proteome can help bridge the gap between the genome and diseases. Here we
describe genome-wide association studies (GWASs) of plasma protein levels measured with …