Emil Uffelmann
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View article: Estimating disorder probability based on polygenic prediction using the BPC approach
Estimating disorder probability based on polygenic prediction using the BPC approach Open
Polygenic Scores (PGSs) summarize an individual’s genetic propensity for a given trait. Bayesian methods, which improve the prediction accuracy of PGSs, are not well-calibrated for binary disorder traits in ascertained samples. This is a p…
View article: Local genetic sex differences in quantitative traits
Local genetic sex differences in quantitative traits Open
Many traits show small global sex differences in genetic correlations and heritability. However, how these differences are distributed across the genome remains unknown. Here, we use LAVA to test for local genetic sex differences in geneti…
View article: Distinguishing different psychiatric disorders using DDx-PRS
Distinguishing different psychiatric disorders using DDx-PRS Open
Despite great progress on methods for case-control polygenic prediction (e.g. schizophrenia vs. control), there remains an unmet need for a method that genetically distinguishes clinically related disorders (e.g. schizophrenia (SCZ) vs. bi…
View article: Estimating Disorder Probability Based on Polygenic Prediction Using the BPC Approach
Estimating Disorder Probability Based on Polygenic Prediction Using the BPC Approach Open
Polygenic Scores (PGSs) summarize an individual’s genetic propensity for a given trait in a single value based on SNP effect sizes derived from Genome-Wide Association Study (GWAS) results. Methods have been developed that apply Bayesian a…
View article: Shared genetic loci between Alzheimer's disease and multiple sclerosis: Crossroads between neurodegeneration and immune system
Shared genetic loci between Alzheimer's disease and multiple sclerosis: Crossroads between neurodegeneration and immune system Open
View article: Local Genetic Sex Differences in Quantitative Traits
Local Genetic Sex Differences in Quantitative Traits Open
Many traits show small global sex differences in genetic correlations and heritability. However, how these differences are distributed across the genome remains unknown. Here, we use LAVA to test for local genetic sex differences in geneti…
View article: Genome-wide association studies of polygenic risk score-derived phenotypes may lead to inflated false positive rates
Genome-wide association studies of polygenic risk score-derived phenotypes may lead to inflated false positive rates Open
Gouveia and colleagues (2022) 1 conducted a genome-wide association study (GWAS) of a polygenic risk score (PRS)-derived phenotype (N = 37,784), in which they identified 246 independent loci and 473 lead SNPs.This is an enormous increase c…
View article: Uncovering the genetic architecture of broad antisocial behavior through a genome-wide association study meta-analysis
Uncovering the genetic architecture of broad antisocial behavior through a genome-wide association study meta-analysis Open
View article: Genome-wide association studies of polygenic risk score-derived phenotypes may lead to inflated false positive rates
Genome-wide association studies of polygenic risk score-derived phenotypes may lead to inflated false positive rates Open
In a recent study, a polygenic risk score (PRS) for Alzheimer’s disease was used to construct a new phenotype for a subsequent genome-wide association study (GWAS). Here we show that the applied method, in which the same genetic variants a…
View article: Using genome-wide association results to identify drug repurposing candidates
Using genome-wide association results to identify drug repurposing candidates Open
Drug repurposing may provide a solution to the substantial challenges facing de novo drug development. Given that 66% of FDA-approved drugs in 2021 were supported by human genetic evidence, drug repurposing methods based on genome wide ass…
View article: Genome-wide association study of polygenic risk score-defined phenotype suffers from inflated test-statistics
Genome-wide association study of polygenic risk score-defined phenotype suffers from inflated test-statistics Open
Simulation results from running the following script 100 times: https://github.com/euffelmann/paper-ad_prs_extremes/blob/main/scripts/ad_prs_extremes_simulation.R. These files can be used to reproduce tables and figures in: https://github.…
View article: Genome-wide association study of polygenic risk score-defined phenotype suffers from inflated test-statistics
Genome-wide association study of polygenic risk score-defined phenotype suffers from inflated test-statistics Open
Simulation results from running the following script 100 times: https://github.com/euffelmann/paper-ad_prs_extremes/blob/main/scripts/ad_prs_extremes_simulation.R.\n\n\nThese files can be used to reproduce tables and figures…
View article: Genome-wide association study of polygenic risk score-defined phenotype suffers from inflated test-statistics
Genome-wide association study of polygenic risk score-defined phenotype suffers from inflated test-statistics Open
Simulation results from running the following script 100 times: https://github.com/euffelmann/paper-ad_prs_extremes/blob/main/scripts/ad_prs_extremes_simulation.R. These files can be used to reproduce tables and figures in: https://github.…
View article: Genome-wide association studies
Genome-wide association studies Open
Genome- wide association studies (GWAS) test hundreds of thousands of genetic variants across many genomes to find those statistically associated with a specific trait or disease. This methodology has generated a myriad of robust associati…
View article: Emerging Methods and Resources for Biological Interrogation of Neuropsychiatric Polygenic Signal
Emerging Methods and Resources for Biological Interrogation of Neuropsychiatric Polygenic Signal Open