Review and further developments in statistical corrections for Winner's Curse in genetic association studies
Genome-wide association studies (GWAS) are commonly used to identify genomic variants
that are associated with complex traits, and estimate the magnitude of this association for …
that are associated with complex traits, and estimate the magnitude of this association for …
A genome-wide scan for common alleles affecting risk for autism
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the
known genetic risk has been traced to rare variants, principally copy number variants …
known genetic risk has been traced to rare variants, principally copy number variants …
Tweedie's formula and selection bias
B Efron - Journal of the American Statistical Association, 2011 - Taylor & Francis
We suppose that the statistician observes some large number of estimates zi, each with its
own unobserved expectation parameter μi. The largest few of the zi's are likely to …
own unobserved expectation parameter μi. The largest few of the zi's are likely to …
FUTURE-AI: International consensus guideline for trustworthy and deployable artificial intelligence in healthcare
Despite major advances in artificial intelligence (AI) research for healthcare, the deployment
and adoption of AI technologies remain limited in clinical practice. This paper describes the …
and adoption of AI technologies remain limited in clinical practice. This paper describes the …
Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo
PF Sullivan, EJC de Geus, G Willemsen… - Molecular …, 2009 - nature.com
Major depressive disorder (MDD) is a common complex trait with enormous public health
significance. As part of the Genetic Association Information Network initiative of the US …
significance. As part of the Genetic Association Information Network initiative of the US …
Overcoming the winner's curse: estimating penetrance parameters from case-control data
Genomewide association studies are now a widely used approach in the search for loci that
affect complex traits. After detection of significant association, estimates of penetrance and …
affect complex traits. After detection of significant association, estimates of penetrance and …
Power, false discovery rate and Winner's Curse in eQTL studies
Investigation of the genetic architecture of gene expression traits has aided interpretation of
disease and trait-associated genetic variants; however, key aspects of expression …
disease and trait-associated genetic variants; however, key aspects of expression …
Clarifying the causes of consistent and inconsistent findings in genetics
As research in genetics has advanced, some findings have been unexpected or shown to be
inconsistent between studies or datasets. The reasons these inconsistencies arise are …
inconsistent between studies or datasets. The reasons these inconsistencies arise are …
Quantifying and correcting for the winner's curse in genetic association studies
R **ao, M Boehnke - … The Official Publication of the International …, 2009 - Wiley Online Library
Genetic association studies are a powerful tool to detect genetic variants that predispose to
human disease. Once an associated variant is identified, investigators are also interested in …
human disease. Once an associated variant is identified, investigators are also interested in …
Estimating effects and making predictions from genome-wide marker data
In genome-wide association studies (GWAS), hundreds of thousands of genetic markers
(SNPs) are tested for association with a trait or phenotype. Reported effects tend to be larger …
(SNPs) are tested for association with a trait or phenotype. Reported effects tend to be larger …