4.7 Article

A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Review Psychiatry

From Basic Science to Clinical Application of Polygenic Risk Scores A Primer

Naomi R. Wray et al.

Summary: Polygenic risk scores (PRS) are predictors of genetic susceptibilities to diseases, calculated based on weighted counts of risk variants identified through genome-wide association studies. While PRS can be calculated from saliva or blood samples using inexpensive genotyping technologies, they may not definitively predict future diagnoses due to genetic factors only contributing partly to the risk. PRS could have utility in community settings or contribute to clinical decision-making, but more data are needed to develop their role in treatment choices.

JAMA PSYCHIATRY (2021)

Review Psychiatry

Could Polygenic Risk Scores Be Useful in Psychiatry? A Review

Graham K. Murray et al.

Summary: Polygenic risk scores have the potential to aid in clinical decision-making in psychiatry, particularly in diagnosis, treatment, and prognosis. Combining PRS with other risk factors may improve prediction of outcomes, but larger samples are needed for further development and evaluation. The utility and ethical considerations of PRS in clinical psychiatry should be carefully assessed in light of realistic expectations.

JAMA PSYCHIATRY (2021)

Article Genetics & Heredity

Evaluation of polygenic prediction methodology within a reference-standardized framework

Oliver Pain et al.

Summary: The study compares the prediction accuracy of eight leading polygenic scoring methods, finding that LDpred2, lassosum, and PRScs perform best on average for methods that calculate multiple polygenic scores, while PRScs performs best for methods that provide a single polygenic score without requiring a tuning sample. The study provides a comprehensive comparison of polygenic scoring methods to guide future implementation in research and clinical settings.

PLOS GENETICS (2021)

Article Multidisciplinary Sciences

Risk prediction of late-onset Alzheimer's disease implies an oligogenic architecture

Qian Zhang et al.

NATURE COMMUNICATIONS (2020)

Article Biochemical Research Methods

LDpred2: better, faster, stronger

Florian Prive et al.

BIOINFORMATICS (2020)

Review Biochemistry & Molecular Biology

Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders

Patrick F. Sullivan et al.

Article Genetics & Heredity

Clinical use of current polygenic risk scores may exacerbate health disparities

Alicia R. Martin et al.

NATURE GENETICS (2019)

Article Multidisciplinary Sciences

Polygenic prediction via Bayesian regression and continuous shrinkage priors

Tian Ge et al.

NATURE COMMUNICATIONS (2019)

Editorial Material Psychiatry

Polygenic Risk Scores in Schizophrenia: Ready for the Real World?

Elisabeth B. Binder

AMERICAN JOURNAL OF PSYCHIATRY (2019)

Article Multidisciplinary Sciences

Improved polygenic prediction by Bayesian multiple regression on summary statistics

Luke R. Lloyd-Jones et al.

NATURE COMMUNICATIONS (2019)

Article Genetics & Heredity

Making the Most of Clumping and Thresholding for Polygenic Scores

Florian Prive et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

Article Genetics & Heredity

Quantifying between-cohort and between-sex genetic heterogeneity in major depressive disorder

Maciej Trzaskowski et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2019)

Review Genetics & Heredity

The personal and clinical utility of polygenic risk scores

Ali Torkamani et al.

NATURE REVIEWS GENETICS (2018)

Article Cardiac & Cardiovascular Systems

Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults Implications for Primary Prevention

Michael Inouye et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2018)

Article Genetics & Heredity

Polygenic scores via penalized regression on summary statistics

Timothy Shin Heng Mak et al.

GENETIC EPIDEMIOLOGY (2017)

Article Psychology, Biological

Genetic evidence of assortative mating in humans

Matthew R. Robinson et al.

NATURE HUMAN BEHAVIOUR (2017)

Review Biotechnology & Applied Microbiology

The impact of rare and low-frequency genetic variants in common disease

Lorenzo Bomba et al.

GENOME BIOLOGY (2017)

Article Psychiatry

An Individualized Risk Calculator for Research in Prodromal Psychosis

Tyrone D. Cannon et al.

AMERICAN JOURNAL OF PSYCHIATRY (2016)

Review Genetics & Heredity

Developing and evaluating polygenic risk prediction models for stratified disease prevention

Nilanjan Chatterjee et al.

NATURE REVIEWS GENETICS (2016)

Article Multidisciplinary Sciences

Biological insights from 108 schizophrenia-associated genetic loci

Stephan Ripke et al.

NATURE (2014)

Article Genetics & Heredity

A Better Coefficient of Determination for Genetic Profile Analysis

Sang Hong Lee et al.

GENETIC EPIDEMIOLOGY (2012)

Article Genetics & Heredity

Estimating Missing Heritability for Disease from Genome-wide Association Studies

Sang Hong Lee et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Biochemical Research Methods

pROC: an open-source package for R and S plus to analyze and compare ROC curves

Xavier Robin et al.

BMC BIOINFORMATICS (2011)

Article Multidisciplinary Sciences

Distribution of allele frequencies and effect sizes and their interrelationships for common genetic susceptibility variants

Ju-Hyun Park et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)

Article Multidisciplinary Sciences

Integrating common and rare genetic variation in diverse human populations

David M. Altshuler et al.

NATURE (2010)

Article Multidisciplinary Sciences

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

Shaun M. Purcell et al.

NATURE (2009)

Article Biochemistry & Molecular Biology

Prediction of individual genetic risk to disease from genome-wide association studies

Naomi R. Wray et al.

GENOME RESEARCH (2007)

Article Cardiac & Cardiovascular Systems

Framingham risk score and prediction of lifetime risk for coronary heart disease

DM Lloyd-Jones et al.

AMERICAN JOURNAL OF CARDIOLOGY (2004)