disease phenotype
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Related entities (46)
Mentioned in (156)
Papers in which this entity is mentioned.
- Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis. (2026)
- Genome-wide association testing beyond SNPs. (2025)
- BioPipeline Creator-a user-friendly Java-based GUI for managing and customizing biological data pipelines. (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)
- Recent advances in polygenic scores: translation, equitability, methods and FAIR tools. (2024)
- An overview of DNA methylation-derived trait score methods and applications. (2023)
- Association between the timing of childhood adversity and epigenetic patterns across childhood and adolescence: findings from the Avon Longitudinal Study of Parents and Children (ALSPAC) prospective cohort. (2023)
- Pitfalls of predicting age-related traits by polygenic risk scores. (2023)
- Validation of the new EPIC DNA methylation microarray (900K EPIC v2) for high-throughput profiling of the human DNA methylome. (2023)
- Polygenic prediction across populations is influenced by ancestry, genetic architecture, and methodology. (2023)
- A systematic review of neuroimaging epigenetic research: calling for an increased focus on development. (2023)
- RNA splicing dysregulation and the hallmarks of cancer. (2023)
- Meta-analysis of epigenome-wide association studies in newborns and children show widespread sex differences in blood DNA methylation. (2022)
- mutations, genetic mosaicism and human disease. (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)
- Variant interpretation using population databases: Lessons from gnomAD. (2022)
- Receiver operating characteristic curve: overview and practical use for clinicians. (2022)
- Detecting cell-of-origin and cancer-specific methylation features of cell-free DNA from Nanopore sequencing. (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)
- Autosomal sex-associated co-methylated regions predict biological sex from DNA methylation. (2021)
- Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression. (2021)
- TCRD and Pharos 2021: mining the human proteome for disease biology. (2021)
- Neurotoxic reactive astrocytes induce cell death via saturated lipids. (2021)
- Simultaneous epigenetic perturbation and genome imaging reveal distinct roles of H3K9me3 in chromatin architecture and transcription. (2020)
- Polygenic risk scores: from research tools to clinical instruments. (2020)
- Infant FreeSurfer: An automated segmentation and surface extraction pipeline for T1-weighted neuroimaging data of infants 0-2 years. (2020)
- Structural variation in the sequencing era. (2020)
- Patterns of Reliability: Assessing the Reproducibility and Integrity of DNA Methylation Measurement. (2020)
- Klotho gene polymorphism, brain structure and cognition in early-life development. (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)
- Transcriptomic signatures across human tissues identify functional rare genetic variation. (2020)
- Polygenic prediction via Bayesian regression and continuous shrinkage priors. (2019)
- Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders. (2019)
- Integrating predicted transcriptome from multiple tissues improves association detection. (2019)
- The mutational constraint spectrum quantified from variation in 141,456 humans (2019)
- Integrating predicted transcriptome from multiple tissues improves association detection. (2019)
- A multi-task convolutional deep neural network for variant calling in single molecule sequencing. (2019)
- RNA-Seq Signatures Normalized by mRNA Abundance Allow Absolute Deconvolution of Human Immune Cell Types. (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)
- mTORC2 in the dorsomedial striatum of mice contributes to alcohol-dependent F-Actin polymerization, structural modifications, and consumption. (2018)
- Oxytocin Receptor Gene Variant Interacts with Intervention Delivery Format in Predicting Intervention Outcomes for Youth with Conduct Problems. (2018)
- Imaging structural and functional brain development in early childhood. (2018)
- Cohort Profile: Pregnancy And Childhood Epigenetics (PACE) Consortium. (2018)
- Identification of novel candidate disease genes from de novo exonic copy number variants. (2017)
- Nanopore Sequencing Reveals High-Resolution Structural Variation in the Cancer Genome (2017)
- Fast and accurate HLA typing from short-read next-generation sequence data with xHLA. (2017)
- Genetic effects on gene expression across human tissues. (2017)
- Genome-wide association study of alcohol consumption and genetic overlap with other health-related traits in UK Biobank (N=112 117). (2017)
- Epigenetics studies of fetal alcohol spectrum disorder: where are we now? (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)
- Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin. (2016)
- New insights into the generation and role of de novo mutations in health and disease. (2016)
- Enacting the molecular imperative: How gene-environment interaction research links bodies and environments in the post-genomic age. (2016)
- Estimating the population abundance of tissue-infiltrating immune and stromal cell populations using gene expression. (2016)
- The PsychENCODE project. (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)
- Clinical assessment of standing and gait in ataxic patients using a triaxial accelerometer. (2015)
- HLAreporter: a tool for HLA typing from next generation sequencing data. (2015)
- A comprehensive view of the epigenetic landscape part I: DNA methylation, passive and active DNA demethylation pathways and histone variants. (2015)
- Comparison of RNA-seq and microarray-based models for clinical endpoint prediction. (2015)
- Genetics and genomics of psychiatric disease. (2015)
- Genetic linkage analysis in the age of whole-genome sequencing. (2015)
- Guidelines for investigating causality of sequence variants in human disease. (2014)
- The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data. (2014)
- Inference of high resolution HLA types using genome-wide RNA or DNA sequencing reads. (2014)
- Screening tests: a review with examples. (2014)
- Conotruncal heart defects and common variants in maternal and fetal genes in folate, homocysteine, and transsulfuration pathways. (2014)
- Function-structure associations of the brain: evidence from multimodal connectivity and covariance studies. (2014)
- Fetal alcohol spectrum disorders and their transmission through genetic and epigenetic mechanisms. (2014)
- PolymiRTS Database 3.0: linking polymorphisms in microRNAs and their target sites with human diseases and biological pathways. (2014)
- Development of thalamocortical connectivity during infancy and its cognitive correlations. (2014)
- The CRHR1 gene, trauma exposure, and alcoholism risk: a test of G × E effects. (2013)
- Is there a viability-vulnerability tradeoff? Sex differences in fetal programming. (2013)
- ACMG clinical laboratory standards for next-generation sequencing. (2013)
- Large-scale genotyping identifies 41 new loci associated with breast cancer risk. (2013)
- HLA typing from 1000 genomes whole genome and whole exome illumina data. (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)
- Reflections on the cost of "low-cost" whole genome sequencing: framing the health policy debate. (2013)
- Pan-cancer patterns of somatic copy number alteration. (2013)
- The Genomic Revolution and Beliefs about Essential Racial Differences: A Backdoor to Eugenics? (2013)
- III. NIH Toolbox Cognition Battery (CB): measuring episodic memory. (2013)
- Gene-environment interactions in cancer epidemiology: a National Cancer Institute Think Tank report. (2013)
- Absolute quantification of somatic DNA alterations in human cancer. (2012)
- Along-tract statistics allow for enhanced tractography analysis. (2012)
- Racial Differences in Exposure and Reactivity to Daily Family Stressors. (2012)
- cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate. (2012)
- An integrated map of genetic variation from 1,092 human genomes. (2012)
- Managing incidental findings and research results in genomic research involving biobanks and archived data sets. (2012)
- CNVs: harbingers of a rare variant revolution in psychiatric genetics. (2012)
- Annotation of functional variation in personal genomes using RegulomeDB. (2012)
- A comparative risk assessment of burden of disease and injury attributable to 67 risk factors and risk factor clusters in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010. (2012)
- Exploration and modulation of brain network interactions with noninvasive brain stimulation in combination with neuroimaging. (2012)
- Detectable clonal mosaicism from birth to old age and its relationship to cancer. (2012)
- HLA typing from RNA-Seq sequence reads. (2012)
- Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011)
- Argonaute2 complexes carry a population of circulating microRNAs independent of vesicles in human plasma. (2011)
- How does your cortex grow? (2011)
- Gene set analysis of genome-wide association studies: methodological issues and perspectives. (2011)
- A Bayesian model of shape and appearance for subcortical brain segmentation. (2011)
- Mechanisms and consequences of alternative polyadenylation. (2011)
- Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate. (2011)
- MicroRNA-9 regulates neurogenesis in mouse telencephalon by targeting multiple transcription factors. (2011)
- The neuroscience of suicidal behaviors: what can we expect from endophenotype strategies? (2011)
- Distribution of allele frequencies and effect sizes and their interrelationships for common genetic susceptibility variants. (2011)
- Haemolysis during sample preparation alters microRNA content of plasma. (2011)
- Genomic regions identified by overlapping clusters of nominally-positive SNPs from genome-wide studies of alcohol and illegal substance dependence. (2011)
- Genome wide association for addiction: replicated results and comparisons of two analytic approaches. (2010)
- Genetics of psychiatric disorders methods: molecular approaches. (2010)
- Risks of overweight and abdominal obesity at age 16 years associated with prenatal exposures to maternal prepregnancy overweight and gestational diabetes mellitus. (2010)
- Statistical analysis strategies for association studies involving rare variants. (2010)
- Liver and adipose expression associated SNPs are enriched for association to type 2 diabetes. (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)
- 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)
- Genome-wide association studies in diverse populations. (2010)
- Novel roles for immune molecules in neural development: implications for neurodevelopmental disorders. (2010)
- The genetic interpretation of area under the ROC curve in genomic profiling. (2010)
- Gene--environment-wide association studies: emerging approaches. (2010)
- SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies. (2009)
- A hybrid design: case-parent triads supplemented by control-mother dyads. (2009)
- A groupwise association test for rare mutations using a weighted sum statistic. (2009)
- The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans. (2009)
- Finding the missing heritability of complex diseases. (2009)
- A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. (2009)
- Choline: an essential nutrient for public health. (2009)
- Genomewide association studies: history, rationale, and prospects for psychiatric disorders. (2009)
- High-resolution mapping of copy-number alterations with massively parallel sequencing. (2009)
- Genomewide association studies and human disease. (2009)
- Genome-wide association studies in ADHD. (2009)
- Marker selection for genetic case-control association studies. (2009)
- Discrimination and racial disparities in health: evidence and needed research. (2009)
- Evolution of the neocortex: a perspective from developmental biology. (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)
- A haplotype containing quantitative trait loci for SLC1A1 gene expression and its association with obsessive-compulsive disorder. (2009)
- Common and rare variants in multifactorial susceptibility to common diseases. (2008)
- Circulating microRNAs as stable blood-based markers for cancer detection. (2008)
- An alcohol binding site on the neural cell adhesion molecule L1. (2008)
- Geographic patterns of genome admixture in Latin American Mestizos. (2008)
- 3' end mRNA processing: molecular mechanisms and implications for health and disease. (2008)
- Variance decomposition using an IRT measurement model. (2007)
- Choline: critical role during fetal development and dietary requirements in adults. (2006)
- SNPs3D: candidate gene and SNP selection for association studies. (2006)
- Linkage analysis and association analysis in the presence of linkage using age at onset of COGA alcoholism data. (2005)
- Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. (2005)
- Measuring the thickness of the human cerebral cortex from magnetic resonance images. (2000)
Merged raw entities (7)
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.
| Raw name | Type | Papers | Mentions |
|---|---|---|---|
| disease | phenotype | 134 | 202 |
| diseases | phenotype | 21 | 22 |
| other diseases | phenotype | 8 | 8 |
| affection status | phenotype | 1 | 1 |
| gwas of diseases | phenotype | — | — |
| over 200 diseases | phenotype | — | — |
| the disease | phenotype | — | — |