Missing heritability of common diseases and treatments outside the protein-coding exome

Detection and replication of epistasis influencing transcription in humans

(2014) Gibran Hemani et al.   NATURE

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

Genome-wide association interaction analysis for Alzheimer's disease

(2014) Elena S. Gusareva et al.   NEUROBIOLOGY OF AGING

Analysis of Multiple Association Studies Provides Evidence of an Expression QTL Hub in Gene-Gene Interaction Network Affecting HDL Cholesterol Levels

(2014) Li Ma et al.   PLoS One

The evolutionary paradox and the missing heritability of schizophrenia

(2013) Jenny van Dongen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Specific-gene studies of evolutionary mechanisms in an age of genome-wide surveying

(2013) Ward B. Watt   Annals of the New York Academy of Sciences

A scalable, knowledge-based analysis framework for genetic association studies

(2013) James W Baurley et al.   BMC BIOINFORMATICS

A genome-wide integrative study of microRNAs in human liver

(2013) Eric R Gamazon et al.   BMC GENOMICS

Whole transcriptome RNA-Seq allelic expression in human brain

(2013) Ryan M Smith et al.   BMC GENOMICS

The genomic signature of trait-associated variants

(2013) Alida S Kindt et al.   BMC GENOMICS

Identifying Recent Adaptations in Large-Scale Genomic Data

(2013) Sharon R. Grossman et al.   CELL

Allelic mRNA expression imbalance in C-type lectins reveals a frequent regulatory SNP in the human surfactant protein A (SP-A) gene

(2013) A K Azad et al.   GENES AND IMMUNITY

Finding Novel Genes by Testing G × E Interactions in a Genome-Wide Association Study

(2013) W. James Gauderman et al.   GENETIC EPIDEMIOLOGY

Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci

(2013) D. S. Paul et al.   GENOME RESEARCH

Common CYP2D6 polymorphisms affecting alternative splicing and transcription: long-range haplotypes with two regulatory variants modulate CYP2D6 activity

(2013) Danxin Wang et al.   HUMAN MOLECULAR GENETICS

Twins and the mystery of missing heritability: the contribution of gene-environment interactions

(2013) J. Kaprio   JOURNAL OF INTERNAL MEDICINE

Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis

(2013)   LANCET

Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia

(2013) D M Ruderfer et al.   MOLECULAR PSYCHIATRY

Effect of natural genetic variation on enhancer selection and function

(2013) S. Heinz et al.   NATURE

Genetics of rheumatoid arthritis contributes to biology and drug discovery

(2013) Yukinori Okada et al.   NATURE

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

(2013) Karen A. Hunt et al.   NATURE

Variation and genetic control of protein abundance in humans

(2013) Linfeng Wu et al.   NATURE

Charting a dynamic DNA methylation landscape of the human genome

(2013) Michael J. Ziller et al.   NATURE

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

Dilated cardiomyopathy: the complexity of a diverse genetic architecture

(2013) Ray E. Hershberger et al.   Nature Reviews Cardiology

DrugBank 4.0: shedding new light on drug metabolism

(2013) Vivian Law et al.   NUCLEIC ACIDS RESEARCH

Estimating heritability in pharmacogenetic studies

(2013) Scott L Marshall et al.   PHARMACOGENOMICS

Cytochrome P450 enzymes in drug metabolism: Regulation of gene expression, enzyme activities, and impact of genetic variation

(2013) Ulrich M. Zanger et al.   PHARMACOLOGY & THERAPEUTICS

Fine-Scale Patterns of Population Stratification Confound Rare Variant Association Tests

(2013) Timothy D. O’Connor et al.   PLoS One

Coordinated Effects of Sequence Variation on DNA Binding, Chromatin Structure, and Transcription

(2013) H. Kilpinen et al.   SCIENCE

Exonic Transcription Factor Binding Directs Codon Choice and Affects Protein Evolution

(2013) A. B. Stergachis et al.   SCIENCE

Primate Transcript and Protein Expression Levels Evolve Under Compensatory Selection Pressures

(2013) Z. Khan et al.   SCIENCE

Multiple Instances of Ancient Balancing Selection Shared Between Humans and Chimpanzees

(2013) E. M. Leffler et al.   SCIENCE

Identification of Genetic Variants That Affect Histone Modifications in Human Cells

(2013) G. McVicker et al.   SCIENCE

Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics

(2013) Ekta Khurana et al.   SCIENCE

An Evolutionary Perspective on Epistasis and the Missing Heritability

(2013) Gibran Hemani et al.   PLoS Genetics

Pervasive Transcription of the Human Genome Produces Thousands of Previously Unidentified Long Intergenic Noncoding RNAs

(2013) Matthew J. Hangauer et al.   PLoS Genetics

The Missing Heritability in T1D and Potential New Targets for Prevention

(2013) Brian G. Pierce et al.   Journal of Diabetes Research

Dopamine transporter DAT and receptor DRD2 variants affect risk of lethal cocaine abuse: a gene–gene–environment interaction

(2013) D Sullivan et al.   Translational Psychiatry

Pharmacogenomics of Cytochrome P450 3A4: Recent Progress Toward the “Missing Heritability” Problem

(2013) Kathrin Klein et al.   Frontiers in Genetics

Estimating Genetic Effects and Quantifying Missing Heritability Explained by Identified Rare-Variant Associations

(2012) Dajiang J. Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Multi-SNP Locus-Association Method Reveals a Substantial Fraction of the Missing Heritability

(2012) Georg B. Ehret et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autism Spectrum Disorders and Autisticlike Traits

(2012) Sebastian Lundström   ARCHIVES OF GENERAL PSYCHIATRY

Operating Characteristics of Alternative Statistical Methods for Detecting Gene-by-Measured Environment Interaction in the Presence of Gene–Environment Correlation in Twin and Sibling Studies

(2012) Carol A. Van Hulle et al.   BEHAVIOR GENETICS

Estimating the Genetic Variance of Major Depressive Disorder Due to All Single Nucleotide Polymorphisms

(2012) Gitta H. Lubke et al.   BIOLOGICAL PSYCHIATRY

Multiple Regulatory Variants Modulate Expression of 5-Hydroxytryptamine 2A Receptors in Human Cortex

(2012) Ryan M. Smith et al.   BIOLOGICAL PSYCHIATRY

The Relevance of “Missing Heritability ” in Pharmacogenomics

(2012) W Sadee   CLINICAL PHARMACOLOGY & THERAPEUTICS

Rates and Fitness Consequences of New Mutations in Humans

(2012) Peter D. Keightley   GENETICS

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

(2012) M. F. Keller et al.   HUMAN MOLECULAR GENETICS

Genome-Wide Analysis of Human SNPs at Long Intergenic Noncoding RNAs

(2012) Geng Chen et al.   HUMAN MUTATION

Innate Immune Gene Polymorphisms in Tuberculosis

(2012) Abul K. Azad et al.   INFECTION AND IMMUNITY

Epistasis as the primary factor in molecular evolution

(2012) Michael S. Breen et al.   NATURE

Functional complexity and regulation through RNA dynamics

(2012) Elizabeth A. Dethoff et al.   NATURE

Modular regulatory principles of large non-coding RNAs

(2012) Mitchell Guttman et al.   NATURE

Landscape of transcription in human cells

(2012) Sarah Djebali et al.   NATURE

RNA discrimination

(2012) Monika S. Kowalczyk et al.   NATURE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Architecture of the human regulatory network derived from ENCODE data

(2012) Mark B. Gerstein et al.   NATURE

Interpreting noncoding genetic variation in complex traits and human disease

(2012) Lucas D Ward et al.   NATURE BIOTECHNOLOGY

Genetic architectures of psychiatric disorders: the emerging picture and its implications

(2012) Patrick F. Sullivan et al.   NATURE REVIEWS GENETICS

The continuing value of twin studies in the omics era

(2012) Jenny van Dongen et al.   NATURE REVIEWS GENETICS

Cholesteryl Ester Transfer Protein (CETP) Polymorphisms Affect mRNA Splicing, HDL Levels, and Sex-Dependent Cardiovascular Risk

(2012) Audrey C. Papp et al.   PLoS One

The mystery of missing heritability: Genetic interactions create phantom heritability

(2012) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Parameters in Dynamic Models of Complex Traits are Containers of Missing Heritability

(2012) Yunpeng Wang et al.   PLoS Computational Biology

Brain Expression Genome-Wide Association Study (eGWAS) Identifies Human Disease-Associated Variants

(2012) Fanggeng Zou et al.   PLoS Genetics

Characterizing genetic interactions in human disease association studies using statistical epistasis networks

(2011) Ting Hu et al.   BMC BIOINFORMATICS

A ceRNA Hypothesis: The Rosetta Stone of a Hidden RNA Language?

(2011) Leonardo Salmena et al.   CELL

Pharmacogenomics of the RNA World: Structural RNA Polymorphisms in Drug Therapy

(2011) W Sadee et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Hypothermia Associated With Antipsychotic Drug Use: A Clinical Case Series and Review of Current Literature

(2011) Peter Kreuzer et al.   JOURNAL OF CLINICAL PHARMACOLOGY

Dopamine Transporter Gene Variant Affecting Expression in Human Brain is Associated with Bipolar Disorder

(2011) Julia K Pinsonneault et al.   NEUROPSYCHOPHARMACOLOGY

Human N-acetyltransferase 1 *10 and *11 alleles increase protein expression through distinct mechanisms and associate with sulfamethoxazole-induced hypersensitivity

(2011) Danxin Wang et al.   Pharmacogenetics and Genomics

Interaction between Cholesteryl Ester Transfer Protein and Hepatic Lipase Encoding Genes and the Risk of Type 2 Diabetes: Results from the Telde Study

(2011) Laura López-Ríos et al.   PLoS One

The causes of epistasis

(2011) J. A. G. M. de Visser et al.   PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Disease Risk Links to Gene Regulation

(2011) E. Pennisi   SCIENCE

Molecular mechanisms of epistasis within and between genes

(2011) Ben Lehner   TRENDS IN GENETICS

Deep epistasis in human metabolism

(2010) Marcin Imielinski et al.   CHAOS

Nicotinic α5 receptor subunit mRNA expression is associated with distant 5′ upstream polymorphisms

(2010) Ryan M Smith et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Base Pairing Constraints Drive Structural Epistasis in Ribosomal RNA Sequences

(2010) Julien Y. Dutheil et al.   MOLECULAR BIOLOGY AND EVOLUTION

Mutational robustness can facilitate adaptation

(2010) Jeremy A. Draghi et al.   NATURE

Widespread transcription at neuronal activity-regulated enhancers

(2010) Tae-Kyung Kim et al.   NATURE

Intronic polymorphism in CYP3A4 affects hepatic expression and response to statin drugs

(2010) D Wang et al.   PHARMACOGENOMICS JOURNAL

Non-Synonymous and Synonymous Coding SNPs Show Similar Likelihood and Effect Size of Human Disease Association

(2010) Rong Chen et al.   PLoS One

Structural Sources of Robustness in Biochemical Reaction Networks

(2010) G. Shinar et al.   SCIENCE

Cost-effectiveness of statins in the primary prevention of cardiovascular disease: a systematic review and economic analysis for Belgium

(2009) M. Neyt et al.   ACTA CARDIOLOGICA

Association of Cytochrome P450 2C19 Genotype With the Antiplatelet Effect and Clinical Efficacy of Clopidogrel Therapy

(2009) Alan R. Shuldiner   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Genetic and Environmental Contributions to Phenotypic Components of Metabolic Syndrome: A Population-based Twin Study

(2009) Shanchun Zhang et al.   Obesity

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Measuring cis-acting regulatory variants genome-wide: new insights into expression genetics and disease susceptibility

(2009) Wolfgang Sadee   Genome Medicine

Regulatory polymorphism in vitamin K epoxide reductase complex subunit 1 (VKORC1) affects gene expression and warfarin dose requirement

(2008) D. Wang et al.   BLOOD

Promoter Polymorphisms in ACE (Angiotensin I–Converting Enzyme) Associated With Clinical Outcomes in Hypertension

(2008) AD Johnson et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Increasing the power of identifying gene × gene interactions in genome-wide association studies

(2008) Charles Kooperberg et al.   GENETIC EPIDEMIOLOGY

Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues

(2008) Andrew D. Johnson et al.   Pharmacogenetics and Genomics