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] A saturated map of common genetic variants associated with human height
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–
50% of phenotypic variation in human height, but identifying the specific variants and …
50% of phenotypic variation in human height, but identifying the specific variants and …
[HTML][HTML] Polygenic scoring accuracy varies across the genetic ancestry continuum
Polygenic scores (PGSs) have limited portability across different groupings of individuals (for
example, by genetic ancestries and/or social determinants of health), preventing their …
example, by genetic ancestries and/or social determinants of health), preventing their …
Validation of biomarkers of aging
The search for biomarkers that quantify biological aging (particularly 'omic'-based
biomarkers) has intensified in recent years. Such biomarkers could predict aging-related …
biomarkers) has intensified in recent years. Such biomarkers could predict aging-related …
Challenges and opportunities for developing more generalizable polygenic risk scores
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …
diseases by aggregating information across multiple genetic variants identified from genome …
Leveraging base-pair mammalian constraint to understand genetic variation and human disease
Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …
attempts to elucidate biological mechanisms are impeded by an inability to discern which …
The Singapore national precision medicine strategy
Precision medicine promises to transform healthcare for groups and individuals through
early disease detection, refining diagnoses and tailoring treatments. Analysis of large-scale …
early disease detection, refining diagnoses and tailoring treatments. Analysis of large-scale …
Calibrated prediction intervals for polygenic scores across diverse contexts
Polygenic scores (PGS) have emerged as the tool of choice for genomic prediction in a wide
range of fields. We show that PGS performance varies broadly across contexts and …
range of fields. We show that PGS performance varies broadly across contexts and …
[HTML][HTML] Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Polygenic risk scores (PRSs) have improved in predictive performance, but several
challenges remain to be addressed before PRSs can be implemented in the clinic, including …
challenges remain to be addressed before PRSs can be implemented in the clinic, including …