A brief history of human disease genetics

M Claussnitzer, JH Cho, R Collins, NJ Cox… - Nature, 2020 - nature.com
A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …

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 …

A cross-population atlas of genetic associations for 220 human phenotypes

S Sakaue, M Kanai, Y Tanigawa, J Karjalainen… - Nature …, 2021 - nature.com
Current genome-wide association studies do not yet capture sufficient diversity in
populations and scope of phenotypes. To expand an atlas of genetic associations in non …

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

U Võsa, A Claringbould, HJ Westra, MJ Bonder… - Nature …, 2021 - nature.com
Trait-associated genetic variants affect complex phenotypes primarily via regulatory
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …

[HTML][HTML] Influence of the microbiome, diet and genetics on inter-individual variation in the human plasma metabolome

L Chen, DV Zhernakova, A Kurilshikov… - Nature Medicine, 2022 - nature.com
The levels of the thousands of metabolites in the human plasma metabolome are strongly
influenced by an individual's genetics and the composition of their diet and gut microbiome …

Large-scale association analyses identify host factors influencing human gut microbiome composition

A Kurilshikov, C Medina-Gomez, R Bacigalupe… - Nature …, 2021 - nature.com
To study the effect of host genetics on gut microbiome composition, the MiBioGen
consortium curated and analyzed genome-wide genotypes and 16S fecal microbiome data …

A reference map of potential determinants for the human serum metabolome

N Bar, T Korem, O Weissbrod, D Zeevi, D Rothschild… - Nature, 2020 - nature.com
The serum metabolome contains a plethora of biomarkers and causative agents of various
diseases, some of which are endogenously produced and some that have been taken up …

Mapping the proteo-genomic convergence of human diseases

M Pietzner, E Wheeler, J Carrasco-Zanini, A Cortes… - Science, 2021 - science.org
INTRODUCTION Proteins are essential functional units of the human body and represent
the largest class of drug targets. RATIONALE Broad-capture proteomics has the potential to …

[HTML][HTML] Rare and common genetic determinants of metabolic individuality and their effects on human health

P Surendran, ID Stewart, VPW Au Yeung, M Pietzner… - Nature Medicine, 2022 - nature.com
Garrod's concept of 'chemical individuality'has contributed to comprehension of the
molecular origins of human diseases. Untargeted high-throughput metabolomic …

The MRC IEU OpenGWAS data infrastructure

B Elsworth, M Lyon, T Alexander, Y Liu, P Matthews… - BioRxiv, 2020 - biorxiv.org
Data generated by genome-wide association studies (GWAS) are growing fast with the
linkage of biobank samples to health records, and expanding capture of high-dimensional …