SNP cohort

Aliases

311,226 SNPs, 500,000 SNPs, >500K SNPs, G, GWS SNP, GWS lead SNP, OCD-associated SNP, PIP>0.95 SNPs, SNP, SNP allele dosage, SNP dataset, SNP effects, SNP genotype, SNP genotypes, SNP variation, SNP3, SNP3 locus, SNP3^G+, SNPs, Single Nucleotide Polymorphism, X, Xl, ancestry informative markers, autosomal SNP, autosomal SNPs, autosomal marker, best SNPs, common variants, control SNP, falsely-significant SNPs, four SNPs, functional SNP, genetic variant, genome wide significant SNPs, genome-wide SNPs, genotyped SNP, genotyped SNPs, given SNP, high-quality SNPs, implicated SNPs, imputed SNP dosages, independent SNPs, index SNP, individual SNPs, jth SNP, lead SNP, loci, marker, nominally-positive SNP, palindromic SNPs, pleiotropic SNPs, polymorphic SNP, polymorphism, poorly-imputed SNPs, proxy SNP, rare allele, remaining SNPs, risk marker, selected SNPs, single SNP, single nucleotide polymorphism, single nucleotide polymorphism markers, single nucleotide polymorphisms, single-nucleotide polymorphism, snip, specific SNPs, tagSNP, tagged SNP, two SNPs

Related entities (314)

Mentioned in (413)

Papers in which this entity is mentioned.

• Advancing regulatory variant effect prediction with AlphaGenome. (2026)
• Mapping the genetic landscape across 14 psychiatric disorders. (2026)
• Specificity, length and luck drive gene rankings in association studies. (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)
• Massively parallel reporter assay investigates shared genetic variants of eight psychiatric disorders. (2025)
• Multiple overlapping binding sites determine transcription factor occupancy. (2025)
• Genome-wide association testing beyond SNPs. (2025)
• Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder. (2025)
• Nucleotide Transformer: building and evaluating robust foundation models for human genomics. (2025)
• KILDA: identifying KIV-2 repeats from kmers. (2025)
• Improving polygenic risk prediction in admixed populations by explicitly modeling ancestral-differential effects via GAUDI. (2024)
• BridgePRS leverages shared genetic effects across ancestries to increase polygenic risk score portability. (2024)
• MUSSEL: Enhanced Bayesian polygenic risk prediction leveraging information across multiple ancestry groups. (2024)
• Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank. (2024)
• Integrative polygenic risk score improves the prediction accuracy of complex traits and diseases. (2024)
• Principles and methods for transferring polygenic risk scores across global populations. (2024)
• Global impact of unproductive splicing on human gene expression. (2024)
• DNA methylation at birth and lateral ventricular volume in childhood: a neuroimaging epigenetics study. (2024)
• Clinical, genomic, and neurophysiological correlates of lifetime suicide attempts among individuals with alcohol dependence. (2024)
• CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. (2024)
• Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders. (2024)
• Integrated Single-Cell Multiomic Profiling of Caudate Nucleus Suggests Key Mechanisms in Alcohol Use Disorder. (2024)
• Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR. (2024)
• Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder. (2024)
• A harmonized public resource of deeply sequenced diverse human genomes. (2024)
• Benchmarking short and long read polishing tools for nanopore assemblies: achieving near-perfect genomes for outbreak isolates. (2024)
• The ameliorative effects of choline on ethanol-induced cell death in the neural tube of susceptible BXD strains of mice. (2023)
• An overview of DNA methylation-derived trait score methods and applications. (2023)
• Effect of schizophrenia common variants on infant brain volumes: cross-sectional study in 207 term neonates in developing Human Connectome Project. (2023)
• Pruning and thresholding approach for methylation risk scores in multi-ancestry populations. (2023)
• Biobank-scale methods and projections for sparse polygenic prediction from machine learning. (2023)
• Unsupervised discovery of ancestry-informative markers and genetic admixture proportions in biobank-scale datasets. (2023)
• Pervasive Downward Bias in Estimates of Liability-Scale Heritability in Genome-wide Association Study Meta-analysis: A Simple Solution. (2023)
• Guidelines for Evaluating the Comparability of Down-Sampled GWAS Summary Statistics. (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)
• Multi-ancestry study of the genetics of problematic alcohol use in over 1 million individuals. (2023)
• Polygenic prediction across populations is influenced by ancestry, genetic architecture, and methodology. (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)
• Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis. (2022)
• The Genetic Architecture of Obsessive-Compulsive Disorder: Contribution of Liability to OCD From Alleles Across the Frequency Spectrum. (2022)
• Single-cell analysis of somatic mutations in human bronchial epithelial cells in relation to aging and smoking. (2022)
• Genome-wide mutational signatures in low-coverage whole genome sequencing of cell-free DNA. (2022)
• Item-Level Genome-Wide Association Study of the Alcohol Use Disorders Identification Test in Three Population-Based Cohorts. (2022)
• A saturated map of common genetic variants associated with human height. (2022)
• Research Review: A guide to computing and implementing polygenic scores in developmental research. (2022)
• Human Retrotransposons and Effective Computational Detection Methods for Next-Generation Sequencing Data. (2022)
• Parsing genetically influenced risk pathways: genetic loci impact problematic alcohol use via externalizing and specific risk. (2022)
• Principal Component Analyses (PCA)-based findings in population genetic studies are highly biased and must be reevaluated. (2022)
• Mapping genomic loci implicates genes and synaptic biology in schizophrenia. (2022)
• Inferring population structure in biobank-scale genomic data. (2022)
• Genetic variants associated with longitudinal changes in brain structure across the lifespan. (2022)
• Epigenome-wide meta-analysis of blood DNA methylation and its association with subcortical volumes: findings from the ENIGMA Epigenetics Working Group. (2021)
• 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)
• Using a developmental perspective to examine the moderating effects of marriage on heavy episodic drinking in a young adult sample enriched for risk. (2021)
• Integrated Genomic Analysis Identifies Driver Genes and Cisplatin-Resistant Progenitor Phenotype in Pediatric Liver Cancer. (2021)
• Polygenic risk scores for alcohol involvement relate to brain structure in substance-naïve children: Results from the ABCD study. (2021)
• Bi-ancestral depression GWAS in the Million Veteran Program and meta-analysis in >1.2 million individuals highlight new therapeutic directions. (2021)
• Detecting cell-type-specific allelic expression imbalance by integrative analysis of bulk and single-cell RNA sequencing data. (2021)
• Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression. (2021)
• Integrative reconstruction of cancer genome karyotypes using InfoGenomeR. (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)
• Data structures based on -mers for querying large collections of sequencing data sets. (2021)
• Inflammatory modulation of the associations between prenatal maternal depression and neonatal brain. (2021)
• Genetic association study of childhood aggression across raters, instruments, and age. (2021)
• Rapid genotype imputation from sequence with reference panels. (2021)
• Genotypes of informative loci from 1000 Genomes data allude evolution and mixing of human populations. (2021)
• Canonical TGF-β signaling regulates the relationship between prenatal maternal depression and amygdala development in early life. (2021)
• Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes. (2021)
• Predicting risk for Alcohol Use Disorder using longitudinal data with multimodal biomarkers and family history: a machine learning study. (2021)
• gene network in the prefrontal cortex is associated with total brain volume in childhood. (2020)
• Interpretation of risk loci from genome-wide association studies of Alzheimer's disease. (2020)
• Genome-wide association analysis of opioid use disorder: A novel approach using clinical data. (2020)
• Sibling comparisons elucidate the associations between educational attainment polygenic scores and alcohol, nicotine and cannabis. (2020)
• Association between DNA methylation and ADHD symptoms from birth to school age: a prospective meta-analysis. (2020)
• GenMap: ultra-fast computation of genome mappability. (2020)
• Tutorial: a guide to performing polygenic risk score analyses. (2020)
• Functionally informed fine-mapping and polygenic localization of complex trait heritability. (2020)
• Choline, Neurological Development and Brain Function: A Systematic Review Focusing on the First 1000 Days. (2020)
• ASEP: Gene-based detection of allele-specific expression across individuals in a population by RNA sequencing. (2020)
• Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks. (2020)
• Accucopy: Accurate and Fast Inference of Allele-specific Copy Number Alterations from Low-coverage Low-purity Tumor Sequencing Data (2020)
• Detecting cell-type-specific allelic expression imbalance by integrative analysis of bulk and single-cell RNA sequencing data (2020)
• Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies. (2020)
• Genome-wide meta-analysis of problematic alcohol use in 435,563 individuals yields insights into biology and relationships with other traits. (2020)
• Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype. (2019)
• Genome-wide DNA methylation comparison between live human brain and peripheral tissues within individuals. (2019)
• Polygenic prediction via Bayesian regression and continuous shrinkage priors. (2019)
• Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders. (2019)
• Sensitive Periods for the Effect of Childhood Adversity on DNA Methylation: Results From a Prospective, Longitudinal Study. (2019)
• Exploring the relationship between polygenic risk for cannabis use, peer cannabis use and the longitudinal course of cannabis involvement. (2019)
• Sex differences in the genetic architecture of obsessive-compulsive disorder. (2019)
• Ploidy- and Purity-Adjusted Allele-Specific DNA Analysis Using CLONETv2. (2019)
• Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. (2019)
• Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies. (2019)
• Linking genes, circuits, and behavior: network connectivity as a novel endophenotype of externalizing. (2019)
• Integrating predicted transcriptome from multiple tissues improves association detection. (2019)
• Genome-wide association study reveals novel loci associated with body size and carcass yields in Pekin ducks. (2019)
• CYP2A6 is associated with obesity: studies in human samples and a high fat diet mouse model. (2019)
• CommonMind Consortium provides transcriptomic and epigenomic data for Schizophrenia and Bipolar Disorder. (2019)
• Genomic structural equation modelling provides insights into the multivariate genetic architecture of complex traits. (2019)
• Association of a Schizophrenia-Risk Nonsynonymous Variant With Putamen Volume in Adolescents: A Voxelwise and Genome-Wide Association Study. (2019)
• The mutational constraint spectrum quantified from variation in 141,456 humans (2019)
• g:Profiler: a web server for functional enrichment analysis and conversions of gene lists (2019 update). (2019)
• The GenomeAsia 100K Project enables genetic discoveries across Asia. (2019)
• Integrating predicted transcriptome from multiple tissues improves association detection. (2019)
• Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations. (2019)
• Polygenic risk for neuropsychiatric disease and vulnerability to abnormal deep grey matter development. (2019)
• VCF2CNA: A tool for efficiently detecting copy-number alterations in VCF genotype data and tumor purity. (2019)
• Ethanol activates immune response in lymphoblastoid cells. (2019)
• A multi-task convolutional deep neural network for variant calling in single molecule sequencing. (2019)
• Identification of common genetic risk variants for autism spectrum disorder. (2019)
• Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. (2019)
• Genome-Wide Association Study Meta-Analysis of the Alcohol Use Disorders Identification Test (AUDIT) in Two Population-Based Cohorts. (2019)
• Genome-wide association analysis links multiple psychiatric liability genes to oscillatory brain activity. (2018)
• 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)
• Unique, dual-indexed sequencing adapters with UMIs effectively eliminate index cross-talk and significantly improve sensitivity of massively parallel sequencing. (2018)
• A SNP panel for identification of DNA and RNA specimens. (2018)
• Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics. (2018)
• Driver Fusions and Their Implications in the Development and Treatment of Human Cancers. (2018)
• Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer's disease susceptibility. (2018)
• Comparison of DNA methylation measured by Illumina 450K and EPIC BeadChips in blood of newborns and 14-year-old children. (2018)
• Enter the Matrix: Factorization Uncovers Knowledge from Omics. (2018)
• Comprehensive Characterization of Cancer Driver Genes and Mutations. (2018)
• Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. (2018)
• A compendium of conserved cleavage and polyadenylation events in mammalian genes. (2018)
• Meta-Analysis of Genetic Influences on Initial Alcohol Sensitivity. (2018)
• Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. (2018)
• Critical Issues in the Inclusion of Genetic and Epigenetic Information in Prevention and Intervention Trials. (2018)
• The Immune Landscape of Cancer. (2018)
• Human Genetics of Addiction: New Insights and Future Directions. (2018)
• Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. (2018)
• Elevated polygenic burden for autism is associated with differential DNA methylation at birth. (2018)
• Nanopore sequencing and assembly of a human genome with ultra-long reads. (2018)
• Integrating single-cell transcriptomic data across different conditions, technologies, and species. (2018)
• PASSPORT-seq: A Novel High-Throughput Bioassay to Functionally Test Polymorphisms in Micro-RNA Target Sites. (2018)
• Glucocorticoid Receptor (NR3C1) Gene Polymorphism Moderate Intervention Effects on the Developmental Trajectory of African-American Adolescent Alcohol Abuse. (2018)
• Incorporating Functional Genomic Information to Enhance Polygenic Signal and Identify Variants Involved in Gene-by-Environment Interaction for Young Adult Alcohol Problems. (2018)
• The fractured landscape of RNA-seq alignment: the default in our STARs. (2018)
• Annotation-free quantification of RNA splicing using LeafCutter. (2018)
• Case-control meta-analysis of blood DNA methylation and autism spectrum disorder. (2018)
• A Brief Critique of the TATES Procedure. (2018)
• The Impact of Peer Substance Use and Polygenic Risk on Trajectories of Heavy Episodic Drinking Across Adolescence and Emerging Adulthood. (2017)
• Genetic studies of alcohol dependence in the context of the addiction cycle. (2017)
• Effects of Antenatal Maternal Depressive Symptoms and Socio-Economic Status on Neonatal Brain Development are Modulated by Genetic Risk. (2017)
• Ensembl 2017. (2017)
• ChimeRScope: a novel alignment-free algorithm for fusion transcript prediction using paired-end RNA-Seq data. (2017)
• Genetic correlates of the development of theta event related oscillations in adolescents and young adults. (2017)
• Machine learning shows association between genetic variability in and cerebral connectivity in preterm infants. (2017)
• Genome-wide association analysis identifies common variants influencing infant brain volumes. (2017)
• The fractured landscape of RNA-seq alignment: The default in our STARs (2017)
• BECon: a tool for interpreting DNA methylation findings from blood in the context of brain. (2017)
• Sex differences in DNA methylation of the cord blood are related to sex-bias psychiatric diseases. (2017)
• Genome-wide association study of alcohol consumption and genetic overlap with other health-related traits in UK Biobank (N=112 117). (2017)
• Genome-Wide Association Studies of a Broad Spectrum of Antisocial Behavior. (2017)
• The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). (2017)
• ReMixT: clone-specific genomic structure estimation in cancer. (2017)
• Imaging Genetics and Genomics in Psychiatry: A Critical Review of Progress and Potential. (2017)
• LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis. (2017)
• Fast and Accurate Genomic Analyses using Genome Graphs (2017)
• Translating genome-wide association findings into new therapeutics for psychiatry. (2016)
• Eigenanalysis of SNP data with an identity by descent interpretation. (2016)
• Mechanisms in the relation between GABRA2 and adolescent externalizing problems. (2016)
• KAT2B polymorphism identified for drug abuse in African Americans with regulatory links to drug abuse pathways in human prefrontal cortex. (2016)
• GeneiASE: Detection of condition-dependent and static allele-specific expression from RNA-seq data without haplotype information. (2016)
• Reference-based phasing using the Haplotype Reference Consortium panel. (2016)
• Three Dimensional Human Neuro-Spheroid Model of Alzheimer's Disease Based on Differentiated Induced Pluripotent Stem Cells. (2016)
• The Pediatric Imaging, Neurocognition, and Genetics (PING) Data Repository. (2016)
• ascatNgs: Identifying Somatically Acquired Copy-Number Alterations from Whole-Genome Sequencing Data. (2016)
• Divergent clonal evolution of castration-resistant neuroendocrine prostate cancer. (2016)
• Genome-wide association study identifies 74 loci associated with educational attainment. (2016)
• DNA methylation signature of human fetal alcohol spectrum disorder. (2016)
• Epigenomic profiling of preterm infants reveals DNA methylation differences at sites associated with neural function. (2016)
• FACETS: allele-specific copy number and clonal heterogeneity analysis tool for high-throughput DNA sequencing. (2016)
• Possible relationship between common genetic variation and white matter development in a pilot study of preterm infants. (2016)
• Detecting Genomic Signatures of Natural Selection with Principal Component Analysis: Application to the 1000 Genomes Data. (2016)
• Genetic and environmental influences interact with age and sex in shaping the human methylome. (2016)
• Fast and accurate long-range phasing in a UK Biobank cohort. (2016)
• Polygenic risk for alcohol dependence associates with alcohol consumption, cognitive function and social deprivation in a population-based cohort. (2016)
• Alcohol Dependence Genetics: Lessons Learned From Genome-Wide Association Studies (GWAS) and Post-GWAS Analyses. (2015)
• Amygdala functional connectivity, HPA axis genetic variation, and life stress in children and relations to anxiety and emotion regulation. (2015)
• The PsychENCODE project. (2015)
• Tools and best practices for data processing in allelic expression analysis. (2015)
• Recent genetic findings in schizophrenia and their therapeutic relevance. (2015)
• Recurrent somatic mutations in regulatory regions of human cancer genomes. (2015)
• A gene-based association method for mapping traits using reference transcriptome data. (2015)
• Peroxisome proliferator-activated receptors α and γ are linked with alcohol consumption in mice and withdrawal and dependence in humans. (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)
• Genome-Wide Meta-Analysis of Longitudinal Alcohol Consumption Across Youth and Early Adulthood. (2015)
• A Genome-Wide Association Study of a Biomarker of Nicotine Metabolism. (2015)
• Lead exposure induces changes in 5-hydroxymethylcytosine clusters in CpG islands in human embryonic stem cells and umbilical cord blood. (2015)
• A global reference for human genetic variation. (2015)
• Candidate gene-environment interaction research: reflections and recommendations. (2015)
• Genomic influences on alcohol problems in a population-based sample of young adults. (2015)
• Design and bioinformatics analysis of genome-wide CLIP experiments. (2015)
• Evaluating historical candidate genes for schizophrenia. (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)
• Genetics and genomics of psychiatric disease. (2015)
• The landscape of long noncoding RNAs in the human transcriptome. (2015)
• A global reference for human genetic variation. (2015)
• Reconstructing A/B compartments as revealed by Hi-C using long-range correlations in epigenetic data. (2015)
• Genome-wide association study of nicotine dependence in American populations: identification of novel risk loci in both African-Americans and European-Americans. (2015)
• WASP: allele-specific software for robust molecular quantitative trait locus discovery. (2015)
• HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data. (2015)
• MBASED: allele-specific expression detection in cancer tissues and cell lines. (2014)
• Unraveling the clonal hierarchy of somatic genomic aberrations. (2014)
• Hidden Markov Model-Based CNV Detection Algorithms for Illumina Genotyping Microarrays. (2014)
• An atlas of active enhancers across human cell types and tissues. (2014)
• RADIA: RNA and DNA integrated analysis for somatic mutation detection. (2014)
• Moderator effects of working memory on the stability of ADHD symptoms by dopamine receptor gene polymorphisms during development. (2014)
• RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing. (2014)
• 708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits. (2014)
• Is the gene-environment interaction paradigm relevant to genome-wide studies? The case of education and body mass index. (2014)
• The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data. (2014)
• Heritability and molecular-genetic basis of the P3 event-related brain potential: a genome-wide association study. (2014)
• Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene. (2014)
• Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants. (2014)
• VariantDB: a flexible annotation and filtering portal for next generation sequencing data. (2014)
• DNA methylation signatures link prenatal famine exposure to growth and metabolism. (2014)
• Maternal obesity and tobacco use modify the impact of genetic variants on the occurrence of conotruncal heart defects. (2014)
• Heritability and genomics of gene expression in peripheral blood. (2014)
• Heritability and molecular-genetic basis of resting EEG activity: a genome-wide association study. (2014)
• An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage. (2014)
• Genome-wide association discoveries of alcohol dependence. (2014)
• Genetic variability in the regulation of gene expression in ten regions of the human brain. (2014)
• The impact of environmental factors in severe psychiatric disorders. (2014)
• In search of rare variants: preliminary results from whole genome sequencing of 1,325 individuals with psychophysiological endophenotypes. (2014)
• Conotruncal heart defects and common variants in maternal and fetal genes in folate, homocysteine, and transsulfuration pathways. (2014)
• TITAN: inference of copy number architectures in clonal cell populations from tumor whole-genome sequence data. (2014)
• Identification of CHRNA5 rare variants in African-American heavy smokers. (2014)
• Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder. (2014)
• Diminishing return for increased Mappability with longer sequencing reads: implications of the k-mer distributions in the human genome. (2014)
• PolymiRTS Database 3.0: linking polymorphisms in microRNAs and their target sites with human diseases and biological pathways. (2014)
• Using genetic information from candidate gene and genome-wide association studies in risk prediction for alcohol dependence. (2014)
• Polygenic risk scores for smoking: predictors for alcohol and cannabis use? (2014)
• Altered gamma-aminobutyric acid type B receptor subunit 1 splicing in alcoholics. (2014)
• Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. (2013)
• Common biological networks underlie genetic risk for alcoholism in African- and European-American populations. (2013)
• A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53. (2013)
• Candidate gene association studies: a comprehensive guide to useful in silico tools. (2013)
• The zebrafish reference genome sequence and its relationship to the human genome. (2013)
• Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity. (2013)
• A mega-analysis of genome-wide association studies for major depressive disorder. (2013)
• Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. (2013)
• Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking. (2013)
• A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. (2013)
• QualComp: a new lossy compressor for quality scores based on rate distortion theory. (2013)
• Visualizing genomic information across chromosomes with PhenoGram. (2013)
• ACMG clinical laboratory standards for next-generation sequencing. (2013)
• Large-scale genotyping identifies 41 new loci associated with breast cancer risk. (2013)
• Pdgfra protects against ethanol-induced craniofacial defects in a zebrafish model of FASD. (2013)
• DNA methylation contributes to natural human variation. (2013)
• A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains. (2013)
• Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. (2013)
• GABRA2 markers moderate the subjective effects of alcohol. (2013)
• ANKK1, TTC12, and NCAM1 polymorphisms and heroin dependence: importance of considering drug exposure. (2013)
• Passive and active DNA methylation and the interplay with genetic variation in gene regulation. (2013)
• Dosage transmission disequilibrium test (dTDT) for linkage and association detection. (2013)
• A cross-platform analysis of 14,177 expression quantitative trait loci derived from lymphoblastoid cell lines. (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)
• Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder. (2013)
• The Genotype-Tissue Expression (GTEx) project. (2013)
• Gene-environment interactions in cancer epidemiology: a National Cancer Institute Think Tank report. (2013)
• Characterizing and measuring bias in sequence data. (2013)
• Analysis of variation at transcription factor binding sites in Drosophila and humans. (2012)
• Landscape of transcription in human cells. (2012)
• Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. (2012)
• The aggregate effect of dopamine genes on dependence symptoms among cocaine users: cross-validation of a candidate system scoring approach. (2012)
• Amyloid pathway-based candidate gene analysis of [(11)C]PiB-PET in the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort. (2012)
• Associations between maternal genotypes and metabolites implicated in congenital heart defects. (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)
• A better prognosis for genetic association studies in mice. (2012)
• cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate. (2012)
• Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (2012)
• An integrated map of genetic variation from 1,092 human genomes. (2012)
• A cross-sample statistical model for SNP detection in short-read sequencing data. (2012)
• Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data. (2012)
• Fast computation and applications of genome mappability. (2012)
• Pathway analysis of genomic data: concepts, methods, and prospects for future development. (2012)
• The genetic basis of alcoholism: multiple phenotypes, many genes, complex networks. (2012)
• Implication of European-derived adiposity loci in African Americans. (2012)
• Genome-wide efficient mixed-model analysis for association studies. (2012)
• Genome-wide association study of primary open angle glaucoma risk and quantitative traits. (2012)
• Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. (2012)
• An integrated encyclopedia of DNA elements in the human genome. (2012)
• A promoter polymorphism in the Per3 gene is associated with alcohol and stress response. (2012)
• Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence. (2012)
• Pharmacogenetics of smoking cessation: role of nicotine target and metabolism genes. (2012)
• The genetics of the opioid system and specific drug addictions. (2012)
• Assessing the impact of nicotine dependence genes on the risk of facial clefts: An example of the use of national registry and biobank data. (2012)
• GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers. (2011)
• A comparison of approaches to account for uncertainty in analysis of imputed genotypes. (2011)
• Association of CHRNA4 polymorphisms with smoking behavior in two populations. (2011)
• Meta-analysis and genome-wide interpretation of genetic susceptibility to drug addiction. (2011)
• TTC12-ANKK1-DRD2 and CHRNA5-CHRNA3-CHRNB4 influence different pathways leading to smoking behavior from adolescence to mid-adulthood. (2011)
• Extensive epigenetic reprogramming in human somatic tissues between fetus and adult. (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)
• A framework for variation discovery and genotyping using next-generation DNA sequencing data. (2011)
• MicroRNA expression in abdominal and gluteal adipose tissue is associated with mRNA expression levels and partly genetically driven. (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)
• Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate. (2011)
• Expanding the range of ZNF804A variants conferring risk of psychosis. (2011)
• Molecular characterization of the translocation breakpoints in the Down syndrome mouse model Ts65Dn. (2011)
• Genome-wide association study of theta band event-related oscillations identifies serotonin receptor gene HTR7 influencing risk of alcohol dependence. (2011)
• Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA. (2011)
• Distribution of allele frequencies and effect sizes and their interrelationships for common genetic susceptibility variants. (2011)
• The FaceBase Consortium: a comprehensive program to facilitate craniofacial research. (2011)
• Genomic regions identified by overlapping clusters of nominally-positive SNPs from genome-wide studies of alcohol and illegal substance dependence. (2011)
• LocusZoom: regional visualization of genome-wide association scan results. (2010)
• Allele-specific copy number analysis of tumors. (2010)
• Genome wide association for addiction: replicated results and comparisons of two analytic approaches. (2010)
• Genetics of psychiatric disorders methods: molecular approaches. (2010)
• Integrative analysis of the melanoma transcriptome. (2010)
• Incorporating age at onset of smoking into genetic models for nicotine dependence: evidence for interaction with multiple genes. (2010)
• New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. (2010)
• Statistical analysis strategies for association studies involving rare variants. (2010)
• Meta-analysis of genome-wide association data identifies a risk locus for major mood disorders on 3p21.1. (2010)
• Liver and adipose expression associated SNPs are enriched for association to type 2 diabetes. (2010)
• LocusZoom: regional visualization of genome-wide association scan results. (2010)
• Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (2010)
• Association study of 182 candidate genes in anorexia nervosa. (2010)
• Consilient research approaches in studying gene x environment interactions in alcohol research. (2010)
• BEDTools: a flexible suite of utilities for comparing genomic features. (2010)
• The psychiatric GWAS consortium: big science comes to psychiatry. (2010)
• Discovering genetic ancestry using spectral graph theory. (2010)
• Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library. (2010)
• A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9. (2010)
• Using public control genotype data to increase power and decrease cost of case-control genetic association studies. (2010)
• Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. (2010)
• Fine mapping of calcineurin (PPP3CA) gene reveals novel alternative splicing patterns, association of 5'UTR trinucleotide repeat with addiction vulnerability, and differential isoform expression in Alzheimer's disease. (2010)
• Conserved role of unc-79 in ethanol responses in lightweight mutant mice. (2010)
• i-GSEA4GWAS: a web server for identification of pathways/gene sets associated with traits by applying an improved gene set enrichment analysis to genome-wide association study. (2010)
• Genome-wide association studies in diverse populations. (2010)
• A new statistic to evaluate imputation reliability. (2010)
• Genetics and beyond--the transcriptome of human monocytes and disease susceptibility. (2010)
• The psychiatric GWAS consortium: big science comes to psychiatry. (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)
• TumorBoost: normalization of allele-specific tumor copy numbers from a single pair of tumor-normal genotyping microarrays. (2010)
• A genome-wide association study of neuroticism in a population-based sample. (2010)
• Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition. (2010)
• Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts. (2010)
• Gene--environment-wide association studies: emerging approaches. (2010)
• Genome-wide association study of bipolar disorder in European American and African American individuals. (2009)
• SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies. (2009)
• Genetic structure of Europeans: a view from the North-East. (2009)
• Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. (2009)
• Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America. (2009)
• Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. (2009)
• Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists. (2009)
• A groupwise association test for rare mutations using a weighted sum statistic. (2009)
• Expansion of the human mu-opioid receptor gene architecture: novel functional variants. (2009)
• Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy. (2009)
• Recurring mutations found by sequencing an acute myeloid leukemia genome. (2009)
• A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. (2009)
• Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo. (2009)
• The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans. (2009)
• Meta-analysis in genome-wide association studies. (2009)
• Finding the missing heritability of complex diseases. (2009)
• Fast and accurate short read alignment with Burrows-Wheeler transform. (2009)
• Genomewide association studies: history, rationale, and prospects for psychiatric disorders. (2009)
• Genomewide association studies and human disease. (2009)
• Genome-wide association studies in ADHD. (2009)
• Dense genomewide linkage scan for alcohol dependence in African Americans: significant linkage on chromosome 10. (2009)
• The future of genetics in psychology and psychiatry: microarrays, genome-wide association, and non-coding RNA. (2009)
• VarScan: variant detection in massively parallel sequencing of individual and pooled samples. (2009)
• Fewer permutations, more accurate P-values. (2009)
• Marker selection for genetic case-control association studies. (2009)
• Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (2009)
• Copy-number-variation and copy-number-alteration region detection by cumulative plots. (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)
• Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept. (2009)
• Fast and accurate short read alignment with Burrows-Wheeler transform. (2009)
• Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk. (2009)
• Genome-wide association study of alcohol dependence. (2009)
• A haplotype containing quantitative trait loci for SLC1A1 gene expression and its association with obsessive-compulsive disorder. (2009)
• Genome-wide and candidate gene association study of cigarette smoking behaviors. (2009)
• Common and rare variants in multifactorial susceptibility to common diseases. (2008)
• Nicotinic acetylcholine receptor beta2 subunit gene implicated in a systems-based candidate gene study of smoking cessation. (2008)
• Association study of Wnt signaling pathway genes in bipolar disorder. (2008)
• Analysis and application of European genetic substructure using 300 K SNP information. (2008)
• Rapid SNP discovery and genetic mapping using sequenced RAD markers. (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)
• PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. (2007)
• Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. (2007)
• Genome-wide maps of chromatin state in pluripotent and lineage-committed cells. (2007)
• The genetics of alcohol metabolism: role of alcohol dehydrogenase and aldehyde dehydrogenase variants. (2007)
• The genetics of alcohol metabolism: role of alcohol dehydrogenase and aldehyde dehydrogenase variants. (2007)
• Identification of risk-related haplotypes with the use of multiple SNPs from nuclear families. (2007)
• Population structure and eigenanalysis. (2006)
• A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. (2006)
• FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization. (2006)
• SNPs3D: candidate gene and SNP selection for association studies. (2006)
• COGA phenotypes and linkages on chromosome 2. (2005)
• Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. (2005)
• An efficient SNP system for mouse genome scanning and elucidating strain relationships. (2004)

Merged raw entities (67)

All extracted name/type variants the normalize job merged into this entity. Use this to spot wrong merges, or aliases that should be split off.