Multi-omics approaches to disease
High-throughput technologies have revolutionized medical research. The advent of
genoty** arrays enabled large-scale genome-wide association studies and methods for …
genoty** arrays enabled large-scale genome-wide association studies and methods for …
From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …
associated with complex traits. These associations could reveal the molecular mechanisms …
Plasma proteomic associations with genetics and health in the UK Biobank
Abstract The Pharma Proteomics Project is a precompetitive biopharmaceutical consortium
characterizing the plasma proteomic profiles of 54,219 UK Biobank participants. Here we …
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
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 …
To identify genetic influences on inflammation-related proteins, we conducted a genome …
A reference panel of 64,976 haplotypes for genotype imputation
Nature genetics, 2016 - nature.com
We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs
constructed using whole-genome sequence data from 20 studies of predominantly …
constructed using whole-genome sequence data from 20 studies of predominantly …
Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals
Circulating proteins are vital in human health and disease and are frequently used as
biomarkers for clinical decision-making or as targets for pharmacological intervention. Here …
biomarkers for clinical decision-making or as targets for pharmacological intervention. Here …
Genomic atlas of the human plasma proteome
Although plasma proteins have important roles in biological processes and are the direct
targets of many drugs, the genetic factors that control inter-individual variation in plasma …
targets of many drugs, the genetic factors that control inter-individual variation in plasma …
Pangenome-based genome inference allows efficient and accurate genoty** across a wide spectrum of variant classes
Typical genoty** workflows map reads to a reference genome before identifying genetic
variants. Generating such alignments introduces reference biases and comes with …
variants. Generating such alignments introduces reference biases and comes with …
Associations between blood type and COVID-19 infection, intubation, and death
The rapid global spread of the novel coronavirus SARS-CoV-2 has strained healthcare and
testing resources, making the identification and prioritization of individuals most at-risk a …
testing resources, making the identification and prioritization of individuals most at-risk a …
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 …