Iron is essential for many biological functions and iron deficiency and overload have major
health implications. We performed a meta-analysis of three genome-wide association …

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 …

Sequence variants in the parental genomes that are not transmitted to a child (the proband)
are often ignored in genetic studies. Here we show that nontransmitted alleles can affect a …

Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …

Low bone mineral density (BMD) is used as a parameter of osteoporosis. Genome-wide
association studies of BMD have hitherto focused on BMD as a quantitative trait, yielding …

INTRODUCTION Diversity in the sequence of the human genome, arising from
recombinations and mutations, is fundamental to human evolution and human diversity …

Sequence variants affecting blood lipids and coronary artery disease (CAD) may enhance
understanding of the atherogenicity of lipid fractions. Using a large resource of whole …

Abnormalities in podocyte gene function, renal ion channels and transporters, and renal
epithelial primary cilia genes lead to defective pronephric kidney function in the zebrafish …

Long-read sequencing (LRS) promises to improve the characterization of structural variants
(SVs). We generated LRS data from 3,622 Icelanders and identified a median of 22,636 SVs …

High-throughput proteomics platforms measuring thousands of proteins in plasma combined
with genomic and phenotypic information have the power to bridge the gap between the …