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Open AccessSelection, 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 reduced predictive performance of PRS...
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Article
Strategic vision for improving human health at The Forefront of Genomics
Starting with the launch of the Human Genome Project three decades ago, and continuing after its completion in 2003, genomics has progressively come to have a central and catalytic role in basic and translatio...
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Open AccessA phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR
We conducted an electronic health record (EHR)-based phenome-wide association study (PheWAS) to discover pleiotropic effects of variants in three lipoprotein metabolism genes PCSK9, APOB, and LDLR. Using high-den...
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Article
UK Biobank debuts as a powerful resource for genomic research
Analysis of the UK Biobank genetic and phenotypic data demonstrate the power of including a large population and detailed phenoty** in a prospective study to identify genetic and lifestyle factors related to...
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Prioritizing diversity in human genomics research
Knowledge of how genomic variants vary by population increases our ability to understand genomic contributions to health and disease and to apply this knowledg...
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A decade of shared genomic associations
A paper that analysed genetic variants in 14,000 people to identify disease-associated regions set the standard for collaborative genome-wide association studies and provided methodological advances whose effe...
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Open AccessThe IGNITE network: a model for genomic medicine implementation and research
Patients, clinicians, researchers and payers are seeking to understand the value of using genomic information (as reflected by genoty**, sequencing, family history or other data) to inform clinical decision-...
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Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data
When applied in large scale to electronic medical record data, the PheWAS approach replicates GWAS associations and reveals potentially new pleiotropic associations.
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Bringing genome-wide association findings into clinical use
Genome-wide association studies (GWASs) have revolutionized the identification of genomic regions associated with complex diseases.
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Incidental genetic findings in randomized clinical trials: recommendations from the Genomics and Randomized Trials Network (GARNET)
Recommendations and guidance on how to handle the return of genetic results to patients have offered limited insight into how to approach incidental genetic findings in the context of clinical trials. This pap...
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Assuring the quality of next-generation sequencing in clinical laboratory practice
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Consistency of genome-wide associations across major ancestral groups
It is not well known whether genetic markers identified through genome-wide association studies (GWAS) confer similar or different risks across people of different ancestry. We screened a regularly updated cat...
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Erratum: Assessing and managing risk when sharing aggregate genetic variant data
Nature Reviews Genetics 12, 730–736 (2011) In the above article, the incorrect link was provided for GWAS Central. The correct link should have been http://www.gwascentral.org. In the Further Information Box, ...
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Assessing and managing risk when sharing aggregate genetic variant data
Meta-analyses that use data from several genome-wide association studies are revealing more disease-associated genetic variants, but how can the privacy of study participants be protected when data are shared?...
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Genome partitioning of genetic variation for complex traits using common SNPs
Peter Visscher and colleagues report an analysis to partition the genetic variation for several complex traits onto chromosome segments and find that the variation explained is approximately proportional to th...
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A new statistic and its power to infer membership in a genome-wide association study using genotype frequencies
Kevin Jacobs and colleagues report a new test statistic for detection of membership of an individual within a genome-wide association study, based on reporting of study genotype frequencies.
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Finding the missing heritability of complex diseases
Genome-wide association studies have identified hundreds of genetic variants associated with complex human diseases, but most confer quite small increments of risk. There seems to be a large component of herit...
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Cohort studies and the genetics of complex disease
Three new studies identify nearly 20 new loci for serum lipid levels using predominantly a prospective cohort study design which also permits extensive and unbiased characterization of environmental exposures....
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Merging and emerging cohorts: Necessary but not sufficient
Long-term health studies of many thousands of individuals are under way in several countries in Europe and Asia, with a view to determining the influence of genes and environment on disease. A similar project ...
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Open AccessDiabetes, gender, and left ventricular structure in African-Americans: the atherosclerosis risk in communities study
Cardiovascular risk associated with diabetes may be partially attributed to left ventricular structural abnormalities. However, the relations between left ventricular structure and diabetes have not been exten...
