Reverse GWAS: Using genetics to identify and model phenotypic subtypes

Estimating SNP-Based Heritability and Genetic Correlation in Case-Control Studies Directly and with Summary Statistics

(2018) Omer Weissbrod et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular Genetic Analysis Subdivided by Adversity Exposure Suggests Etiologic Heterogeneity in Major Depression

(2018) Roseann E. Peterson et al.   AMERICAN JOURNAL OF PSYCHIATRY

Single-cell RNA-seq of human induced pluripotent stem cells reveals cellular heterogeneity and cell state transitions between subpopulations

(2018) Quan H. Nguyen et al.   GENOME RESEARCH

Effects of aspirin on risks of vascular events and cancer according to bodyweight and dose: analysis of individual patient data from randomised trials

(2018) Peter M Rothwell et al.   LANCET

Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition

(2018) Kerrin S. Small et al.   NATURE GENETICS

Exploring patterns enriched in a dataset with contrastive principal component analysis

(2018) Abubakar Abid et al.   Nature Communications

AI can be sexist and racist — it’s time to make it fair

(2018) James Zou et al.   NATURE

Evolutionary routes and KRAS dosage define pancreatic cancer phenotypes

(2018) Sebastian Mueller et al.   NATURE

Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: A soft clustering analysis

(2018) Miriam S. Udler et al.   PLOS MEDICINE

The Metabolic Syndrome in Men study: a resource for studies of metabolic and cardiovascular diseases

(2017) Markku Laakso et al.   JOURNAL OF LIPID RESEARCH

The impact of rare variation on gene expression across tissues

(2017) Xin Li et al.   NATURE

Genotype–covariate interaction effects and the heritability of adult body mass index

(2017) Matthew R Robinson et al.   NATURE GENETICS

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

(2017) Roger L Milne et al.   NATURE GENETICS

Allele-specific expression reveals interactions between genetic variation and environment

(2017) David A Knowles et al.   NATURE METHODS

Machine learning shows association between genetic variability inPPARGand cerebral connectivity in preterm infants

(2017) Michelle L. Krishnan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Association of Fenofibrate Therapy With Long-term Cardiovascular Risk in Statin-Treated Patients With Type 2 Diabetes

(2017) Marshall B. Elam et al.   JAMA Cardiology

SUGP1 is a novel regulator of cholesterol metabolism

(2016) Mee J. Kim et al.   HUMAN MOLECULAR GENETICS

Association Between Low-Density Lipoprotein Cholesterol–Lowering Genetic Variants and Risk of Type 2 Diabetes

(2016) Luca A. Lotta et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Multidimensional endotyping in patients with severe asthma reveals inflammatory heterogeneity in matrix metalloproteinases and chitinase 3–like protein 1

(2016) Timothy S.C. Hinks et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A method for identifying genetic heterogeneity within phenotypically defined disease subgroups

(2016) James Liley et al.   NATURE GENETICS

A multiple-phenotype imputation method for genetic studies

(2016) Andrew Dahl et al.   NATURE GENETICS

Simultaneous dimension reduction and adjustment for confounding variation

(2016) Zhixiang Lin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Accounting for Population Structure in Gene-by-Environment Interactions in Genome-Wide Association Studies Using Mixed Models

(2016) Jae Hoon Sul et al.   PLoS Genetics

Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder

(2015) Robert Maier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Uncovering the Hidden Risk Architecture of the Schizophrenias: Confirmation in Three Independent Genome-Wide Association Studies

(2015) Javier Arnedo et al.   AMERICAN JOURNAL OF PSYCHIATRY

Differences in Breast Cancer Stage at Diagnosis and Cancer-Specific Survival by Race and Ethnicity in the United States

(2015) Javaid Iqbal et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Sparse whole-genome sequencing identifies two loci for major depressive disorder

(2015) Na Cai et al.   NATURE

A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease

(2015) Majid Nikpay et al.   NATURE GENETICS

Heterogeneity of autoimmune diseases: pathophysiologic insights from genetics and implications for new therapies

(2015) Judy H Cho et al.   NATURE MEDICINE

Identification of type 2 diabetes subgroups through topological analysis of patient similarity

(2015) Li Li et al.   Science Translational Medicine

Genetics of Type 2 Diabetes—Pitfalls and Possibilities

(2015) Rashmi Prasad et al.   Genes

Gene-Environment Dependence Creates Spurious Gene-Environment Interaction

(2014) Frank Dudbridge et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Effective Genetic-Risk Prediction Using Mixed Models

(2014) David Golan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Heterogeneity in Alzheimer Disease and Implications for Treatment Strategies

(2014) John M. Ringman et al.   Current Neurology and Neuroscience Reports

Obesity-associated variants within FTO form long-range functional connections with IRX3

(2014) Scott Smemo et al.   NATURE

Disentangling the heterogeneity of autism spectrum disorder through genetic findings

(2014) Shafali S. Jeste et al.   Nature Reviews Neurology

The Genetics of Major Depression

(2014) Jonathan Flint et al.   NEURON

Measuring missing heritability: Inferring the contribution of common variants

(2014) David Golan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Common Genetic Variants Modulate Pathogen-Sensing Responses in Human Dendritic Cells

(2014) M. N. Lee et al.   SCIENCE

Warped linear mixed models for the genetic analysis of transformed phenotypes

(2014) Nicolo Fusi et al.   Nature Communications

Genetic interactions affecting human gene expression identified by variance association mapping

(2014) Andrew Anand Brown et al.   eLife

Detecting regulatory gene–environment interactions with unmeasured environmental factors

(2013) Nicoló Fusi et al.   BIOINFORMATICS

Systematic identification of interaction effects between genome- and environment-wide associations in type 2 diabetes mellitus

(2013) Chirag J. Patel et al.   HUMAN GENETICS

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

(2013) S Hong Lee et al.   NATURE GENETICS

Analysis of case–control association studies with known risk variants

(2012) Noah Zaitlen et al.   BIOINFORMATICS

Sugar-Sweetened Beverages and Genetic Risk of Obesity

(2012) Qibin Qi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Variants Identified in a GWAS Meta-Analysis for Blood Lipids Are Associated with the Lipid Response to Fenofibrate

(2012) Stella Aslibekyan et al.   PLoS One

Informed Conditioning on Clinical Covariates Increases Power in Case-Control Association Studies

(2012) Noah Zaitlen et al.   PLoS Genetics

Influence of Physical Inactivity on Associations Between Single Nucleotide Polymorphisms and Genetic Predisposition to Childhood Obesity

(2011) B. Xi et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Risk of Incident Diabetes With Intensive-Dose Compared With Moderate-Dose Statin Therapy

(2011) David Preiss   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Topology based data analysis identifies a subgroup of breast cancers with a unique mutational profile and excellent survival

(2011) M. Nicolau et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Interactions of Dietary Whole-Grain Intake With Fasting Glucose- and Insulin-Related Genetic Loci in Individuals of European Descent: A meta-analysis of 14 cohort studies

(2010) J. A. Nettleton et al.   DIABETES CARE

Reduced-Function CYP2C19 Genotype and Risk of Adverse Clinical Outcomes Among Patients Treated With Clopidogrel Predominantly for PCI

(2010) Jessica L. Mega et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Statins and risk of incident diabetes: a collaborative meta-analysis of randomised statin trials

(2010) Naveed Sattar et al.   LANCET

Subtypes of medulloblastoma have distinct developmental origins

(2010) Paul Gibson et al.   NATURE

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

(2010) Jian Yang et al.   NATURE GENETICS

Variance component model to account for sample structure in genome-wide association studies

(2010) Hyun Min Kang et al.   NATURE GENETICS

Model Assessment Tools for a Model False World

(2010) Bruce Lindsay et al.   STATISTICAL SCIENCE

Estimation of the Warfarin Dose with Clinical and Pharmacogenetic Data

(2009)   NEW ENGLAND JOURNAL OF MEDICINE

Association between glucokinase regulatory protein (GCKR) and apolipoprotein A5 (APOA5) gene polymorphisms and triacylglycerol concentrations in fasting, postprandial, and fenofibrate-treated states

(2008) Pablo Perez-Martinez et al.   AMERICAN JOURNAL OF CLINICAL NUTRITION

Interaction Effect of Genetic Polymorphisms in Glucokinase (GCK) and Glucokinase Regulatory Protein (GCKR) on Metabolic Traits in Healthy Chinese Adults and Adolescents

(2008) C. H.T. Tam et al.   DIABETES