Mendelian randomization for cardiovascular diseases: principles and applications

SC Larsson, AS Butterworth… - European heart journal, 2023 - academic.oup.com
Large-scale genome-wide association studies conducted over the last decade have
uncovered numerous genetic variants associated with cardiometabolic traits and risk factors …

Gene–environment interactions and their impact on human health

SJ Virolainen, A VonHandorf, KCMF Viel… - Genes & …, 2023 - nature.com
The molecular processes underlying human health and disease are highly complex. Often,
genetic and environmental factors contribute to a given disease or phenotype in a non …

Plasma proteomic associations with genetics and health in the UK Biobank

BB Sun, J Chiou, M Traylor, C Benner, YH Hsu… - Nature, 2023 - nature.com
Abstract The Pharma Proteomics Project is a precompetitive biopharmaceutical consortium
characterizing the plasma proteomic profiles of 54,219 UK Biobank participants. Here we …

Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets

JH Zhao, D Stacey, N Eriksson… - Nature …, 2023 - nature.com
Circulating proteins have important functions in inflammation and a broad range of diseases.
To identify genetic influences on inflammation-related proteins, we conducted a genome …

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 …

Organ aging signatures in the plasma proteome track health and disease

HSH Oh, J Rutledge, D Nachun, R Pálovics, O Abiose… - Nature, 2023 - nature.com
Animal studies show aging varies between individuals as well as between organs within an
individual,,–, but whether this is true in humans and its effect on age-related diseases is …

Systematic differences in discovery of genetic effects on gene expression and complex traits

H Mostafavi, JP Spence, S Naqvi, JK Pritchard - Nature genetics, 2023 - nature.com
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …

RCSB Protein Data Bank (RCSB. org): delivery of experimentally-determined PDB structures alongside one million computed structure models of proteins from …

SK Burley, C Bhikadiya, C Bi, S Bittrich… - Nucleic acids …, 2023 - academic.oup.com
Abstract The Research Collaboratory for Structural Bioinformatics Protein Data Bank (RCSB
PDB), founding member of the Worldwide Protein Data Bank (wwPDB), is the US data center …

The UCSC genome browser database: 2023 update

LR Nassar, GP Barber, A Benet-Pagès… - Nucleic acids …, 2023 - academic.oup.com
Abstract The UCSC Genome Browser (https://genome. ucsc. edu) is an omics data
consolidator, graphical viewer, and general bioinformatics resource that continues to serve …

Nucleotide Transformer: building and evaluating robust foundation models for human genomics

H Dalla-Torre, L Gonzalez, J Mendoza-Revilla… - Nature …, 2024 - nature.com
The prediction of molecular phenotypes from DNA sequences remains a longstanding
challenge in genomics, often driven by limited annotated data and the inability to transfer …