Tutorial: a guide to performing polygenic risk score analyses
SW Choi, TSH Mak, PF O'Reilly - Nature protocols, 2020 - nature.com
A polygenic score (PGS) or polygenic risk score (PRS) is an estimate of an individual's
genetic liability to a trait or disease, calculated according to their genotype profile and …
genetic liability to a trait or disease, calculated according to their genotype profile and …
Dissecting the genetics of complex traits using summary association statistics
B Pasaniuc, AL Price - Nature reviews genetics, 2017 - nature.com
During the past decade, genome-wide association studies (GWAS) have been used to
successfully identify tens of thousands of genetic variants associated with complex traits and …
successfully identify tens of thousands of genetic variants associated with complex traits and …
Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects
Estimates from genome-wide association studies (GWAS) of unrelated individuals capture
effects of inherited variation (direct effects), demography (population stratification …
effects of inherited variation (direct effects), demography (population stratification …
The MR-Base platform supports systematic causal inference across the human phenome
Results from genome-wide association studies (GWAS) can be used to infer causal
relationships between phenotypes, using a strategy known as 2-sample Mendelian …
relationships between phenotypes, using a strategy known as 2-sample Mendelian …
Concepts, estimation and interpretation of SNP-based heritability
Abstract Narrow-sense heritability (h 2) is an important genetic parameter that quantifies the
proportion of phenotypic variance in a trait attributable to the additive genetic variation …
proportion of phenotypic variance in a trait attributable to the additive genetic variation …
Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights
Genome-wide association studies (GWAS) have identified over 100 risk loci for
schizophrenia, but the causal mechanisms remain largely unknown. We performed a …
schizophrenia, but the causal mechanisms remain largely unknown. We performed a …
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
There are thousands of rare human disorders that are caused by single deleterious, protein-
coding genetic variants. However, patients with the same genetic defect can have different …
coding genetic variants. However, patients with the same genetic defect can have different …
GWAS of suicide attempt in psychiatric disorders and association with major depression polygenic risk scores
Objective: More than 90% of people who attempt suicide have a psychiatric diagnosis;
however, twin and family studies suggest that the genetic etiology of suicide attempt is …
however, twin and family studies suggest that the genetic etiology of suicide attempt is …
Evaluation of polygenic prediction methodology within a reference-standardized framework
O Pain, KP Glanville, SP Hagenaars, S Selzam… - PLoS …, 2021 - journals.plos.org
The predictive utility of polygenic scores is increasing, and many polygenic scoring methods
are available, but it is unclear which method performs best. This study evaluates the …
are available, but it is unclear which method performs best. This study evaluates the …
Contrasting the genetic architecture of 30 complex traits from summary association data
Variance-component methods that estimate the aggregate contribution of large sets of
variants to the heritability of complex traits have yielded important insights into the genetic …
variants to the heritability of complex traits have yielded important insights into the genetic …