Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program

Genome-Wide Polygenic Risk Score for Retinopathy of Type 2 Diabetes

(2021) Iain S Forrest et al.   HUMAN MOLECULAR GENETICS

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

(2021) Daniel Taliun et al.   NATURE

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

(2020) Huwenbo Shi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Association of Dysanapsis With Chronic Obstructive Pulmonary Disease Among Older Adults

(2020) Benjamin M. Smith et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts

(2020) Matthew Moll et al.   Lancet Respiratory Medicine

The GTEx Consortium atlas of genetic regulatory effects across human tissues

(2020)   SCIENCE

Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants

(2020) Xutong Zhao et al.   Nature Communications

PhenomeXcan: Mapping the genome to the phenome through the transcriptome

(2020) Milton Pividori et al.   Science Advances

Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis

(2019) Seth A. Sharp et al.   DIABETES CARE

A fully adjusted two-stage procedure for rank-normalization in genetic association studies

(2019) Tamar Sofer et al.   GENETIC EPIDEMIOLOGY

Clinical use of current polygenic risk scores may exacerbate health disparities

(2019) Alicia R. Martin et al.   NATURE GENETICS

New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries

(2019) Nick Shrine et al.   NATURE GENETICS

Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations

(2019) Phuwanat Sakornsakolpat et al.   NATURE GENETICS

The Missing Diversity in Human Genetic Studies

(2019) Giorgio Sirugo et al.   CELL

A Genetic Risk Score Associated with COPD Susceptibility and Lung Structure on Computed Tomography

(2019) Elizabeth C Oelsner et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Genetic association testing using the GENESIS R/Bioconductor package

(2019) Stephanie M Gogarten et al.   BIOINFORMATICS

Genetic analyses of diverse populations improves discovery for complex traits

(2019) Genevieve L. Wojcik et al.   NATURE

Analysis of polygenic risk score usage and performance in diverse human populations

(2019) L. Duncan et al.   Nature Communications

Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

(2019) Eleonora Porcu et al.   Nature Communications

The “All of Us” Research Program

(2019)   NEW ENGLAND JOURNAL OF MEDICINE

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

(2018) Alvaro N. Barbeira et al.   Nature Communications

Cardiovascular disease: The rise of the genetic risk score

(2018) Joshua W. Knowles et al.   PLOS MEDICINE

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function

(2018) Annah B. Wyss et al.   Nature Communications

Genetic architecture of gene expression traits across diverse populations

(2018) Lauren S. Mogil et al.   PLoS Genetics

Flexible statistical methods for estimating and testing effects in genomic studies with multiple conditions

(2018) Sarah M. Urbut et al.   NATURE GENETICS

Multiethnic polygenic risk scores improve risk prediction in diverse populations

(2017) Carla Márquez-Luna et al.   GENETIC EPIDEMIOLOGY

Polygenic scores via penalized regression on summary statistics

(2017) Timothy Shin Heng Mak et al.   GENETIC EPIDEMIOLOGY

Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets

(2017) Louise V Wain et al.   NATURE GENETICS

Integrating molecular QTL data into genome-wide genetic association analysis: Probabilistic assessment of enrichment and colocalization

(2017) Xiaoquan Wen et al.   PLoS Genetics

Complex Sources of Variation in Tissue Expression Data: Analysis of the GTEx Lung Transcriptome

(2016) Matthew N. McCall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

(2015) Bjarni J. Vilhjálmsson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Explicit Modeling of Ancestry Improves Polygenic Risk Scores and BLUP Prediction

(2015) Chia-Yen Chen et al.   GENETIC EPIDEMIOLOGY

A gene-based association method for mapping traits using reference transcriptome data

(2015) Eric R Gamazon et al.   NATURE GENETICS

Characteristics of COPD in never-smokers and ever-smokers in the general population: results from the CanCOLD study

(2015) W C Tan et al.   THORAX

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

Trans-ethnic genome-wide association studies: advantages and challenges of mapping in diverse populations

(2014) Yun R Li et al.   Genome Medicine

Heritability of Chronic Obstructive Pulmonary Disease and Related Phenotypes in Smokers

(2013) Jin J. Zhou et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

High Trans-ethnic Replicability of GWAS Results Implies Common Causal Variants

(2013) Urko M. Marigorta et al.   PLoS Genetics

Power and Predictive Accuracy of Polygenic Risk Scores

(2013) Frank Dudbridge   PLoS Genetics

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

(2011) Xavier Robin et al.   BMC BIOINFORMATICS

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

Genetic influences on chronic obstructive pulmonary disease – A twin study

(2010) Truls Ingebrigtsen et al.   RESPIRATORY MEDICINE