4.6 Article

Construction and evaluation of the functional polygenic risk score for gastric cancer in a prospective cohort of the European population

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。
Article Oncology

Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between lung adenocarcinoma and squamous cell carcinoma

Na Qin et al.

Summary: This study integrated genotype data of lung adenocarcinoma and squamous cell carcinoma cases to analyze susceptibility variants for non-small cell lung cancer, revealing differences between AD and SqCC genes in pathways and functions. The results shed light on the genetic heterogeneity between AD and SqCC in NSCLC.

FRONTIERS OF MEDICINE (2021)

Article Genetics & Heredity

A cross-population atlas of genetic associations for 220 human phenotypes

Saori Sakaue et al.

Summary: The study conducted deep-phenotype genome-wide association studies in BioBank Japan, identifying approximately 5,000 new loci and improving the resolution of the genomic map of human traits. By decomposing matrices of phenome-wide summary statistics, responsible variants and biological mechanisms underlying current disease classifications across populations were pinpointed.

NATURE GENETICS (2021)

Article Genetics & Heredity

A unified framework for cross-population trait prediction by leveraging the genetic correlation of polygenic traits

Mingxuan Cai et al.

Summary: This study introduces a cross-population analysis framework for polygenic risk score (PRS) construction, which leverages trans-ancestry genetic correlation to improve risk prediction accuracy in non-European populations and incorporates population-specific effects to enhance PRS construction. The methods show significant savings in computational time and memory usage, and through simulation studies demonstrate accurate and efficient PRS construction across various genetic architectures.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

Article Genetics & Heredity

A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease

Douglas P. Wightman et al.

Summary: This study identified seven new genetic loci associated with Alzheimer's disease through a genome-wide association study, implicating microglia and immune cells in late-onset disease. The research highlights the relevance of microglia, immune cells, and protein catabolism to late-onset Alzheimer's disease, while prioritizing previously unidentified genes for further investigation. The results are expected to contribute to larger meta-analyses to uncover additional genetic variants affecting Alzheimer's pathology.

NATURE GENETICS (2021)

Review Genetics & Heredity

Feature Review Genetic prediction of complex traits with polygenic scores: a statistical review

Ying Ma et al.

Summary: Accurate genetic prediction is crucial for disease screening and personalized medicine, with the development of polygenic scores (PGS) playing a key role in this process. The review presents 46 methods for PGS construction and connects them through a multiple linear regression framework, providing insights into prediction performance for traits with distinct genetic architectures, as well as discussing challenges and future directions in PGS method development.

TRENDS IN GENETICS (2021)

Article Genetics & Heredity

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Laura Fachal et al.

NATURE GENETICS (2020)

Article Genetics & Heredity

Accurate and Scalable Construction of Polygenic Scores in Large Biobank Data Sets

Sheng Yang et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2020)

Article Genetics & Heredity

Localizing Components of Shared Transethnic Genetic Architecture of Complex Traits from GWAS Summary Data

Huwenbo Shi et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2020)

Article Genetics & Heredity

Non-parametric Polygenic Risk Prediction via Partitioned GWAS Summary Statistics

Sung Chun et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2020)

Review Genetics & Heredity

Electronic health records and polygenic risk scores for predicting disease risk

Ruowang Li et al.

NATURE REVIEWS GENETICS (2020)

Review Biochemical Research Methods

Tutorial: a guide to performing polygenic risk score analyses

Shing Wan Choi et al.

NATURE PROTOCOLS (2020)

Article Genetics & Heredity

Clinical use of current polygenic risk scores may exacerbate health disparities

Alicia R. Martin et al.

NATURE GENETICS (2019)

Editorial Material Medicine, General & Internal

What Are Polygenic Scores and Why Are They Important?

Leo P. Sugrue et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2019)

Article Genetics & Heredity

Comparing Within- and Between-Family Polygenic Score Prediction

Saskia Selzam et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

Article Multidisciplinary Sciences

Association analysis identifies 65 new breast cancer risk loci

Kyriaki Michailidou et al.

NATURE (2017)

Article Biochemistry & Molecular Biology

Defining a Cancer Dependency Map

Aviad Tsherniak et al.

Article Multidisciplinary Sciences

Genetic studies of body mass index yield new insights for obesity biology

Adam E. Locke et al.

NATURE (2015)

Article Genetics & Heredity

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher et al.

NATURE GENETICS (2014)

Letter Biochemical Research Methods

MutationTaster2: mutation prediction for the deep-sequencing age

Jana Marie Schwarz et al.

NATURE METHODS (2014)

Article Biochemistry & Molecular Biology

GENCODE: The reference human genome annotation for The ENCODE Project

Jennifer Harrow et al.

GENOME RESEARCH (2012)

Article Multidisciplinary Sciences

An Infinitesimal Model for Quantitative Trait Genomic Value Prediction

Zhiqiu Hu et al.

PLOS ONE (2012)

Article Multidisciplinary Sciences

Predicting the Functional Effect of Amino Acid Substitutions and Indels

Yongwook Choi et al.

PLOS ONE (2012)

Article Biochemistry & Molecular Biology

Predicting the functional impact of protein mutations: application to cancer genomics

Boris Reva et al.

NUCLEIC ACIDS RESEARCH (2011)

Letter Biochemical Research Methods

A method and server for predicting damaging missense mutations

Ivan A. Adzhubei et al.

NATURE METHODS (2010)

Article Biochemistry & Molecular Biology

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang et al.

NUCLEIC ACIDS RESEARCH (2010)

Article Biochemistry & Molecular Biology

Identification of deleterious mutations within three human genomes

Sung Chun et al.

GENOME RESEARCH (2009)

Article Biochemical Research Methods

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Prateek Kumar et al.

NATURE PROTOCOLS (2009)