Pharmacogenomics: current status and future perspectives
M Pirmohamed - Nature Reviews Genetics, 2023 - nature.com
Inter-individual variability in drug response, be it efficacy or safety, is common and likely to
become an increasing problem globally given the growing elderly population requiring …
become an increasing problem globally given the growing elderly population requiring …
Principles and methods for transferring polygenic risk scores across global populations
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …
or disease and may become a valuable tool for advancing precision medicine. However …
[HTML][HTML] FinnGen provides genetic insights from a well-phenotyped isolated population
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 …
alleles are often concentrated on a small number of low-frequency variants (0.1%≤ minor …
FinnGen: Unique genetic insights from combining isolated population and national health register data
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 …
spectrum of damaging alleles in any gene is often concentrated on a small number of low …
Causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals
Individuals of admixed ancestries (for example, African Americans) inherit a mosaic of
ancestry segments (local ancestry) originating from multiple continental ancestral …
ancestry segments (local ancestry) originating from multiple continental ancestral …
[HTML][HTML] A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease
Identification of individuals at highest risk of coronary artery disease (CAD)—ideally before
onset—remains an important public health need. Prior studies have developed genome …
onset—remains an important public health need. Prior studies have developed genome …
[HTML][HTML] Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary …
Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and
predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of …
predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of …
Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens
Most variants associated with complex traits and diseases identified by genome-wide
association studies (GWAS) map to noncoding regions of the genome with unknown effects …
association studies (GWAS) map to noncoding regions of the genome with unknown effects …
Inference of chronic obstructive pulmonary disease with deep learning on raw spirograms identifies new genetic loci and improves risk models
Chronic obstructive pulmonary disease (COPD), the third leading cause of death worldwide,
is highly heritable. While COPD is clinically defined by applying thresholds to summary …
is highly heritable. While COPD is clinically defined by applying thresholds to summary …
[HTML][HTML] Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure
Heart failure is a leading cause of cardiovascular morbidity and mortality. However, the
contribution of common genetic variation to heart failure risk has not been fully elucidated …
contribution of common genetic variation to heart failure risk has not been fully elucidated …