genetic variants cohort

Aliases

150 genetic variants, IV, SNPs, addiction-associated genetic variations, allele, associated genetic variant, candidate gene SNP, coding SNP, coding variant, gene variants, genetic differences, genetic factors, genetic sequence variation, genetic variant, genetic variant indexed by j, genetic variants, genetic variation, genetic variations, genotype, genotype groups, genotype markers, genotype predictor, individual genetic variants, loci, multiple genetic variants, mutation, non-coding variant, posterior genotype probabilities, risk allele, single genetic variant, specific gene variant, tagging SNP, variant, variant j, variants

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Papers in which this entity is mentioned.

• Integrated in vivo combinatorial functional genomics and spatial transcriptomics of tumours to decode genotype-to-phenotype relationships. (2026)
• Mapping the genetic landscape across 14 psychiatric disorders. (2026)
• Modeling heterogeneity in single-cell perturbation states enhances detection of response eQTLs. (2025)
• Concordance between male- and female-specific GWAS results helps define underlying genetic architecture of complex traits. (2025)
• Genome-wide association testing beyond SNPs. (2025)
• Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition. (2025)
• Nucleotide Transformer: building and evaluating robust foundation models for human genomics. (2025)
• A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies. (2025)
• KILDA: identifying KIV-2 repeats from kmers. (2025)
• Mutations in the bone morphogenetic protein signaling pathway sensitize zebrafish and humans to ethanol-induced jaw malformations. (2025)
• CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. (2024)
• The Polygenic Score Catalog: new functionality and tools to enable FAIR research. (2024)
• The Human Phenotype Ontology in 2024: phenotypes around the world. (2024)
• Integrated Single-Cell Multiomic Profiling of Caudate Nucleus Suggests Key Mechanisms in Alcohol Use Disorder. (2024)
• DrugBank 6.0: the DrugBank Knowledgebase for 2024. (2024)
• Exact global alignment using A* with chaining seed heuristic and match pruning. (2024)
• A harmonized public resource of deeply sequenced diverse human genomes. (2024)
• Single-cell RNA sequencing of peripheral blood links cell-type-specific regulation of splicing to autoimmune and inflammatory diseases. (2024)
• A New Era of Data-Driven Cancer Research and Care: Opportunities and Challenges. (2024)
• Pruning and thresholding approach for methylation risk scores in multi-ancestry populations. (2023)
• A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies. (2023)
• Biobank-scale methods and projections for sparse polygenic prediction from machine learning. (2023)
• Gene-alcohol interactions in birth defects. (2023)
• Polygenic scoring accuracy varies across the genetic ancestry continuum. (2023)
• Depression pathophysiology, risk prediction of recurrence and comorbid psychiatric disorders using genome-wide analyses. (2023)
• Genetic Influences on the Developing Young Brain and Risk for Neuropsychiatric Disorders. (2023)
• Multi-trait genome-wide association study of opioid addiction: OPRM1 and beyond. (2022)
• At the dawn: cell-free DNA fragmentomics and gene regulation. (2022)
• Parsing genetically influenced risk pathways: genetic loci impact problematic alcohol use via externalizing and specific risk. (2022)
• The Promise and Peril of Genetics. (2022)
• Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease. (2022)
• Gene-based polygenic risk scores analysis of alcohol use disorder in African Americans. (2022)
• Genetic variants associated with longitudinal changes in brain structure across the lifespan. (2022)
• Large-scale collaboration in ENIGMA-EEG: A perspective on the meta-analytic approach to link neurological and psychiatric liability genes to electrophysiological brain activity. (2021)
• Epigenome-wide change and variation in DNA methylation in childhood: trajectories from birth to late adolescence. (2021)
• Genome-wide admixture mapping of DSM-IV alcohol dependence, criterion count, and the self-rating of the effects of ethanol in African American populations. (2021)
• Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction. (2021)
• Genetic scores for adult subcortical volumes associate with subcortical volumes during infancy and childhood. (2021)
• Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology. (2021)
• Genetics of substance use disorders in the era of big data. (2021)
• Interpretation of risk loci from genome-wide association studies of Alzheimer's disease. (2020)
• The reactome pathway knowledgebase. (2020)
• Polygenic risk scores: from research tools to clinical instruments. (2020)
• Newborn amygdalar volumes are associated with maternal prenatal psychological distress in a sex-dependent way. (2020)
• Tutorial: a guide to performing polygenic risk score analyses. (2020)
• DNA methylation and brain structure and function across the life course: A systematic review. (2020)
• Detecting cell-type-specific allelic expression imbalance by integrative analysis of bulk and single-cell RNA sequencing data (2020)
• Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders. (2019)
• Integrating predicted transcriptome from multiple tissues improves association detection. (2019)
• CommonMind Consortium provides transcriptomic and epigenomic data for Schizophrenia and Bipolar Disorder. (2019)
• Association of a Schizophrenia-Risk Nonsynonymous Variant With Putamen Volume in Adolescents: A Voxelwise and Genome-Wide Association Study. (2019)
• The GenomeAsia 100K Project enables genetic discoveries across Asia. (2019)
• Integrating predicted transcriptome from multiple tissues improves association detection. (2019)
• Polygenic risk for alcohol misuse is moderated by romantic partnerships. (2019)
• Epigenetics and depression
. (2019)
• Psychosocial moderation of polygenic risk for cannabis involvement: the role of trauma exposure and frequency of religious service attendance. (2019)
• Collider scope: when selection bias can substantially influence observed associations. (2018)
• Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types. (2018)
• The Gene Encoding Protocadherin 9 (PCDH9), a Novel Risk Factor for Major Depressive Disorder. (2018)
• Psychiatric Genomics: An Update and an Agenda. (2018)
• What Should a Psychiatrist Know About Genetics? Review and Recommendations From the Residency Education Committee of the International Society of Psychiatric Genetics. (2018)
• Critical Issues in the Inclusion of Genetic and Epigenetic Information in Prevention and Intervention Trials. (2018)
• Diagnosis and Pharmacotherapy of Alcohol Use Disorder: A Review. (2018)
• Human Genetics of Addiction: New Insights and Future Directions. (2018)
• Elevated polygenic burden for autism is associated with differential DNA methylation at birth. (2018)
• PASSPORT-seq: A Novel High-Throughput Bioassay to Functionally Test Polymorphisms in Micro-RNA Target Sites. (2018)
• Incorporating Functional Genomic Information to Enhance Polygenic Signal and Identify Variants Involved in Gene-by-Environment Interaction for Young Adult Alcohol Problems. (2018)
• FKBP5 Moderates the Association between Antenatal Maternal Depressive Symptoms and Neonatal Brain Morphology. (2018)
• Annotation-free quantification of RNA splicing using LeafCutter. (2018)
• PDGFRA gene, maternal binge drinking and obstructive heart defects. (2018)
• Cohort Profile: Pregnancy And Childhood Epigenetics (PACE) Consortium. (2018)
• Genetic studies of alcohol dependence in the context of the addiction cycle. (2017)
• A Next Generation Connectivity Map: L1000 Platform and the First 1,000,000 Profiles. (2017)
• Genetic correlates of the development of theta event related oscillations in adolescents and young adults. (2017)
• Extending the MR-Egger method for multivariable Mendelian randomization to correct for both measured and unmeasured pleiotropy. (2017)
• Genome-Wide Association Studies of a Broad Spectrum of Antisocial Behavior. (2017)
• Time-specific and cumulative effects of exposure to parental externalizing behavior on risk for young adult alcohol use disorder. (2017)
• Does prenatal stress alter the developing connectome? (2017)
• Imaging Genetics and Genomics in Psychiatry: A Critical Review of Progress and Potential. (2017)
• Translating genome-wide association findings into new therapeutics for psychiatry. (2016)
• G = E: What GWAS Can Tell Us about the Environment. (2016)
• Novel genetic loci underlying human intracranial volume identified through genome-wide association. (2016)
• New insights into the generation and role of de novo mutations in health and disease. (2016)
• KAT2B polymorphism identified for drug abuse in African Americans with regulatory links to drug abuse pathways in human prefrontal cortex. (2016)
• Pre- and Post-Natal Maternal Depressive Symptoms in Relation with Infant Frontal Function, Connectivity, and Behaviors. (2016)
• Enacting the molecular imperative: How gene-environment interaction research links bodies and environments in the post-genomic age. (2016)
• The clinical trial landscape in oncology and connectivity of somatic mutational profiles to targeted therapies. (2016)
• Development and clinical application of an integrative genomic approach to personalized cancer therapy. (2016)
• Genetic and environmental influences interact with age and sex in shaping the human methylome. (2016)
• Role of overlapping genetic and environmental factors in the relationship between early adolescent conduct problems and substance use in young adulthood. (2016)
• The PsychENCODE project. (2015)
• Tools and best practices for data processing in allelic expression analysis. (2015)
• The heritability of alcohol use disorders: a meta-analysis of twin and adoption studies. (2015)
• A gene-based association method for mapping traits using reference transcriptome data. (2015)
• An introductory review of parallel independent component analysis (p-ICA) and a guide to applying p-ICA to genetic data and imaging phenotypes to identify disease-associated biological pathways and systems in common complex disorders. (2015)
• Genetic absence of nNOS worsens fetal alcohol effects in mice. II: microencephaly and neuronal losses. (2015)
• GABRA2 Alcohol Dependence Risk Allele is Associated with Reduced Expression of Chromosome 4p12 GABAA Subunit Genes in Human Neural Cultures. (2015)
• A global reference for human genetic variation. (2015)
• ERBB4 polymorphism and family history of psychiatric disorders on age-related cortical changes in healthy children. (2015)
• Candidate gene-environment interaction research: reflections and recommendations. (2015)
• Interparental Relationship Sensitivity Leads to Adolescent Internalizing Problems: Different Genotypes, Different Pathways. (2015)
• Gender modulates the development of theta event related oscillations in adolescents and young adults. (2015)
• Obstructive heart defects associated with candidate genes, maternal obesity, and folic acid supplementation. (2015)
• Can Genetics Predict Response to Complex Behavioral Interventions? Evidence from a Genetic Analysis of the Fast Track Randomized Control Trial. (2015)
• Regulation of calcitriol biosynthesis and activity: focus on gestational vitamin D deficiency and adverse pregnancy outcomes. (2015)
• Clinically relevant genetic biomarkers from the brain in alcoholism with representation on high resolution chromosome ideograms. (2015)
• Importance of genetics in fetal alcohol effects: null mutation of the nNOS gene worsens alcohol-induced cerebellar neuronal losses and behavioral deficits. (2015)
• DNA methylation and healthy human aging. (2015)
• Orchestrating high-throughput genomic analysis with Bioconductor. (2015)
• Quantitative tract-based white matter heritability in twin neonates. (2015)
• Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank. (2015)
• Evaluation of the influence of alcohol dehydrogenase polymorphisms on alcohol elimination rates in African Americans. (2014)
• Polymorphisms in ABC transporter genes and concentrations of mercury in newborns--evidence from two Mediterranean birth cohorts. (2014)
• Detecting ultralow-frequency mutations by Duplex Sequencing. (2014)
• White matter development and early cognition in babies and toddlers. (2014)
• Guidelines for investigating causality of sequence variants in human disease. (2014)
• The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data. (2014)
• Pharmacogenetics of OPRM1. (2014)
• A tensor-based morphometry analysis of regional differences in brain volume in relation to prenatal alcohol exposure. (2014)
• Genetic influences on alcohol use across stages of development: GABRA2 and longitudinal trajectories of drunkenness from adolescence to young adulthood. (2014)
• Face shape differs in phylogenetically related populations. (2014)
• Testing for measured gene-environment interaction: problems with the use of cross-product terms and a regression model reparameterization solution. (2014)
• Gene × environment interaction studies have not properly controlled for potential confounders: the problem and the (simple) solution. (2014)
• The teratogenic effects of prenatal ethanol exposure are exacerbated by Sonic Hedgehog or GLI2 haploinsufficiency in the mouse. (2014)
• Using genetic information from candidate gene and genome-wide association studies in risk prediction for alcohol dependence. (2014)
• Choline partially prevents the impact of ethanol on the lipid raft dependent functions of l1 cell adhesion molecule. (2014)
• Mitogen-activated protein kinase modulates ethanol inhibition of cell adhesion mediated by the L1 neural cell adhesion molecule. (2013)
• Prenatal alcohol exposure and offspring cognition and school performance. A 'Mendelian randomization' natural experiment. (2013)
• Nutrition in pregnancy: the argument for including a source of choline. (2013)
• Childhood trauma exposure and alcohol dependence severity in adulthood: mediation by emotional abuse severity and neuroticism. (2013)
• GABRA2 markers moderate the subjective effects of alcohol. (2013)
• Passive and active DNA methylation and the interplay with genetic variation in gene regulation. (2013)
• Structure and function of complex brain networks. (2013)
• DNA methylation, genotype and gene expression: who is driving and who is along for the ride? (2013)
• The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. (2013)
• The Genotype-Tissue Expression (GTEx) project. (2013)
• Gene-environment interactions in cancer epidemiology: a National Cancer Institute Think Tank report. (2013)
• Neuroprotective actions of perinatal choline nutrition. (2013)
• Alcohol consumption in men is influenced by qualitatively different genetic factors in adolescence and adulthood. (2013)
• The aggregate effect of dopamine genes on dependence symptoms among cocaine users: cross-validation of a candidate system scoring approach. (2012)
• Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence. (2012)
• Population-specificity of human DNA methylation. (2012)
• The genetics of alcohol dependence: advancing towards systems-based approaches. (2012)
• Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (2012)
• Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (2012)
• Managing incidental findings and research results in genomic research involving biobanks and archived data sets. (2012)
• Deletion of the gabra2 gene results in hypersensitivity to the acute effects of ethanol but does not alter ethanol self administration. (2012)
• The genetic basis of alcoholism: multiple phenotypes, many genes, complex networks. (2012)
• The genetic basis of addictive disorders. (2012)
• The impact of gene-environment interaction on alcohol use disorders. (2012)
• Genome-wide association study of primary open angle glaucoma risk and quantitative traits. (2012)
• Pharmacogenetics of smoking cessation: role of nicotine target and metabolism genes. (2012)
• Association among SNAP-25 gene DdeI and MnlI polymorphisms and hemodynamic changes during methylphenidate use: a functional near-infrared spectroscopy study. (2011)
• The effects of prenatal alcohol exposure on behavior: rodent and primate studies. (2011)
• A comparison of approaches to account for uncertainty in analysis of imputed genotypes. (2011)
• Epilepsy genetics--past, present, and future. (2011)
• Meta-analysis and genome-wide interpretation of genetic susceptibility to drug addiction. (2011)
• Uncovering hidden variance: pair-wise SNP analysis accounts for additional variance in nicotine dependence. (2011)
• Linkage analysis merging replicate phenotypes: an application to three quantitative phenotypes in two African samples. (2011)
• MicroRNA expression in abdominal and gluteal adipose tissue is associated with mRNA expression levels and partly genetically driven. (2011)
• Gene-environment interaction in psychological traits and disorders. (2011)
• Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies. (2011)
• Genetic polymorphisms in 15q25 and 19q13 loci, cotinine levels, and risk of lung cancer in EPIC. (2011)
• Gene set analysis of genome-wide association studies: methodological issues and perspectives. (2011)
• The investigation into CYP2E1 in relation to the level of response to alcohol through a combination of linkage and association analysis. (2011)
• The serotonin transporter gene and startle response during nicotine deprivation. (2011)
• The neuroscience of suicidal behaviors: what can we expect from endophenotype strategies? (2011)
• From genotype to EEG endophenotype: a route for post-genomic understanding of complex psychiatric disease? (2010)
• The early growth and development study: using the prospective adoption design to examine genotype-environment interplay. 2008. (2010)
• Association study of 182 candidate genes in anorexia nervosa. (2010)
• Consilient research approaches in studying gene x environment interactions in alcohol research. (2010)
• The psychiatric GWAS consortium: big science comes to psychiatry. (2010)
• Using public control genotype data to increase power and decrease cost of case-control genetic association studies. (2010)
• A new statistic to evaluate imputation reliability. (2010)
• The psychiatric GWAS consortium: big science comes to psychiatry. (2010)
• Maternal folate-related gene environment interactions and congenital heart defects. (2010)
• Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort. (2010)
• A genome-wide association study of neuroticism in a population-based sample. (2010)
• Micro-computed tomography-based phenotypic approaches in embryology: procedural artifacts on assessments of embryonic craniofacial growth and development. (2010)
• The genetic interpretation of area under the ROC curve in genomic profiling. (2010)
• Gene--environment-wide association studies: emerging approaches. (2010)
• Meta-analysis in genome-wide association studies. (2009)
• Deletion of glycine transporter 1 (GlyT1) in forebrain neurons facilitates reversal learning: enhanced cognitive adaptability? (2009)
• Interaction between the serotonin transporter gene (5-HTTLPR), stressful life events, and risk of depression: a meta-analysis. (2009)
• Finding the missing heritability of complex diseases. (2009)
• Choline: an essential nutrient for public health. (2009)
• Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (2009)
• Interaction between two independent CNR1 variants increases risk for cocaine dependence in European Americans: a replication study in family-based sample and population-based sample. (2009)
• The possible influence of impulsivity and dietary restraint on associations between serotonin genes and binge eating. (2009)
• Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept. (2009)
• Elevated fatty acid ethyl esters in meconium of sheep fetuses exposed in utero to ethanol--a new animal model. (2008)
• The incentive salience of alcohol: translating the effects of genetic variant in CNR1. (2008)
• RNA-seq: an assessment of technical reproducibility and comparison with gene expression arrays. (2008)
• Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. (2008)
• MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings. (2008)
• The changing impact of genes and environment on brain development during childhood and adolescence: initial findings from a neuroimaging study of pediatric twins. (2008)
• Association of a single nucleotide polymorphism in neuronal acetylcholine receptor subunit alpha 5 (CHRNA5) with smoking status and with 'pleasurable buzz' during early experimentation with smoking. (2008)
• Genetic and environmental factors in complex neurodevelopmental disorders. (2007)
• Heterogeneity in meta-analyses of genome-wide association investigations. (2007)
• Choline: critical role during fetal development and dietary requirements in adults. (2006)
• Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. (2005)

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