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 …
biomedical traits, particularly those related to the onset and progression of human disease …
Genetics meets proteomics: perspectives for large population-based studies
Proteomic analysis of cells, tissues and body fluids has generated valuable insights into the
complex processes influencing human biology. Proteins represent intermediate phenotypes …
complex processes influencing human biology. Proteins represent intermediate phenotypes …
Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases
Y Chen, T Lu, U Pettersson-Kymmer, ID Stewart… - Nature …, 2023 - nature.com
Metabolic processes can influence disease risk and provide therapeutic targets. By
conducting genome-wide association studies of 1,091 blood metabolites and 309 metabolite …
conducting genome-wide association studies of 1,091 blood metabolites and 309 metabolite …
Influence of the microbiome, diet and genetics on inter-individual variation in the human plasma metabolome
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 …
influenced by an individual's genetics and the composition of their diet and gut microbiome …
A cross-population atlas of genetic associations for 220 human phenotypes
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 …
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
Trait-associated genetic variants affect complex phenotypes primarily via regulatory
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …
Map** the proteo-genomic convergence of human diseases
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 …
the largest class of drug targets. RATIONALE Broad-capture proteomics has the potential to …
Large-scale association analyses identify host factors influencing human gut microbiome composition
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 …
consortium curated and analyzed genome-wide genotypes and 16S fecal microbiome data …
Rare and common genetic determinants of metabolic individuality and their effects on human health
Garrod's concept of 'chemical individuality'has contributed to comprehension of the
molecular origins of human diseases. Untargeted high-throughput metabolomic …
molecular origins of human diseases. Untargeted high-throughput metabolomic …
The MRC IEU OpenGWAS data infrastructure
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 …
linkage of biobank samples to health records, and expanding capture of high-dimensional …