Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …

To the Editor—Advances in genotyping and sequencing technologies, the growing
availability of electronic health records for research use and the emergence of population-scale …

The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic
architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of …

With very large sample sizes, biobanks provide an exciting opportunity to identify genetic
components of complex traits. To analyze rare variants, region-based multiple-variant …

Mendelian randomization (MR) is an epidemiological technique for estimating causal
relationships using observational data, which has become very popular in recent years following …

Parkinson’s disease (PD), with its characteristic loss of nigrostriatal dopaminergic neurons
and deposition of α-synuclein in neurons, is often considered a neuronal disorder. However, …

Pharmaceutical drugs targeting dyslipidemia and cardiovascular disease (CVD) may increase
the risk of fatty liver disease and other metabolic disorders. To identify potential novel …

Neuronal intranuclear inclusion disease (NIID) is a clinically heterogeneous neurodegenerative
condition characterized by pathological intranuclear eosinophilic inclusions. A CGG …

Genetic correlation ( r g \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym}
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Iron is essential for many biological processes, but iron levels must be tightly regulated to
avoid harmful effects of both iron deficiency and overload. Here, we perform genome-wide …