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

Related entities (32)

Mentioned in (65)

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)
• 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)
• 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)
• 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)
• 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)
• 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)
• Polygenic risk scores: from research tools to clinical instruments. (2020)
• Tutorial: a guide to performing polygenic risk score analyses. (2020)
• Detecting cell-type-specific allelic expression imbalance by integrative analysis of bulk and single-cell RNA sequencing data (2020)
• Integrating predicted transcriptome from multiple tissues improves association detection. (2019)
• Integrating predicted transcriptome from multiple tissues improves association detection. (2019)
• Psychosocial moderation of polygenic risk for cannabis involvement: the role of trauma exposure and frequency of religious service attendance. (2019)
• PASSPORT-seq: A Novel High-Throughput Bioassay to Functionally Test Polymorphisms in Micro-RNA Target Sites. (2018)
• Annotation-free quantification of RNA splicing using LeafCutter. (2018)
• PDGFRA gene, maternal binge drinking and obstructive heart defects. (2018)
• Genetic correlates of the development of theta event related oscillations in adolescents and young adults. (2017)
• 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)
• 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)
• The PsychENCODE project. (2015)
• Tools and best practices for data processing in allelic expression analysis. (2015)
• A gene-based association method for mapping traits using reference transcriptome data. (2015)
• A global reference for human genetic variation. (2015)
• Candidate gene-environment interaction research: reflections and recommendations. (2015)
• Gender modulates the development of theta event related oscillations in adolescents and young adults. (2015)
• 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)
• 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)
• Mitogen-activated protein kinase modulates ethanol inhibition of cell adhesion mediated by the L1 neural cell adhesion molecule. (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)
• Linkage analysis merging replicate phenotypes: an application to three quantitative phenotypes in two African samples. (2011)
• Gene-environment interaction in psychological traits and disorders. (2011)
• A new statistic to evaluate imputation reliability. (2010)
• 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)

Merged raw entities (39)

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.