15 years of GWAS discovery: realizing the promise
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …
Here, we review how this experimental design has realized its promise by facilitating an …
Pharmacogenomics beyond single common genetic variants: the way forward
Interindividual variability in genes encoding drug-metabolizing enzymes, transporters,
receptors, and human leukocyte antigens has a major impact on a patient's response to …
receptors, and human leukocyte antigens has a major impact on a patient's response to …
Rare coding variant analysis for human diseases across biobanks and ancestries
Large-scale sequencing has enabled unparalleled opportunities to investigate the role of
rare coding variation in human phenotypic variability. Here, we present a pan-ancestry …
rare coding variation in human phenotypic variability. Here, we present a pan-ancestry …
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
One of the justifiable criticisms of human genetic studies is the underrepresentation of
participants from diverse populations. Lack of inclusion must be addressed at-scale to …
participants from diverse populations. Lack of inclusion must be addressed at-scale to …
A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants
Underrepresentation of non-European (EUR) populations hinders growth of global precision
medicine. Resources such as imputation reference panels that match the study population …
medicine. Resources such as imputation reference panels that match the study population …
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 …
Boosting the power of genome-wide association studies within and across ancestries by using polygenic scores
Genome-wide association studies (GWASs) have been mostly conducted in populations of
European ancestry, which currently limits the transferability of their findings to other …
European ancestry, which currently limits the transferability of their findings to other …
Precision medicine in complex diseases—Molecular subgrou** for improved prediction and treatment stratification
Complex diseases are caused by a combination of genetic, lifestyle, and environmental
factors and comprise common noncommunicable diseases, including allergies …
factors and comprise common noncommunicable diseases, including allergies …
Community-wide genome sequencing reveals 30 years of Darwin's finch evolution
A fundamental goal in evolutionary biology is to understand the genetic architecture of
adaptive traits. Using whole-genome data of 3955 of Darwin's finches on the Galápagos …
adaptive traits. Using whole-genome data of 3955 of Darwin's finches on the Galápagos …
Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease
The integration of quantitative trait loci (QTLs) with disease genome-wide association
studies (GWASs) has proven successful in prioritizing candidate genes at disease …
studies (GWASs) has proven successful in prioritizing candidate genes at disease …