Two decades ago, the sequence of the first human genome was published. Since then,
advances in genome technologies have resulted in whole-genome sequencing and …

The prevalence of obesity has tripled over the past four decades, imposing an enormous
burden on people's health. Polygenic (or common) obesity and rare, severe, early-onset …

Population isolates such as those in Finland benefit genetic research because deleterious
alleles are often concentrated on a small number of low-frequency variants (0.1%≤ minor …

Abstract The NHGRI-EBI GWAS Catalog (www. ebi. ac. uk/gwas) is a FAIR knowledgebase
providing detailed, structured, standardised and interoperable genome-wide association …

Abstract Ensembl (https://www. ensembl. org) has produced high-quality genomic resources
for vertebrates and model organisms for more than twenty years. During that time, our …

Abstract The Open Targets Platform (https://platform. opentargets. org/) is an open source
resource to systematically assist drug target identification and prioritisation using publicly …

The human Y chromosome has been notoriously difficult to sequence and assemble
because of its complex repeat structure that includes long palindromes, tandem repeats and …

Population isolates such as Finland provide benefits in genetic studies because the allelic
spectrum of damaging alleles in any gene is often concentrated on a small number of low …

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 …

Predicting the effects of coding variants is a major challenge. While recent deep-learning
models have improved variant effect prediction accuracy, they cannot analyze all coding …