disease phenotype

Aliases

GWAS of diseases, affection status, disease, disorder, health outcomes, over 200 diseases, phenotype, the disease, trait

Related entities (1)

Mentioned in (51)

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)
• Pitfalls of predicting age-related traits by polygenic risk scores. (2023)
• RNA splicing dysregulation and the hallmarks of cancer. (2023)
• 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)
• 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)
• 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)
• Polygenic risk scores: from research tools to clinical instruments. (2020)
• Structural variation in the sequencing era. (2020)
• Tutorial: a guide to performing polygenic risk score analyses. (2020)
• Transcriptomic signatures across human tissues identify functional rare genetic variation. (2020)
• Polygenic prediction via Bayesian regression and continuous shrinkage priors. (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)
• 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)
• Epigenetics studies of fetal alcohol spectrum disorder: where are we now? (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)
• Estimating the population abundance of tissue-infiltrating immune and stromal cell populations using gene expression. (2016)
• The PsychENCODE project. (2015)
• HLAreporter: a tool for HLA typing from next generation sequencing data. (2015)
• Comparison of RNA-seq and microarray-based models for clinical endpoint prediction. (2015)
• Genetic linkage analysis in the age of whole-genome sequencing. (2015)
• Inference of high resolution HLA types using genome-wide RNA or DNA sequencing reads. (2014)
• ACMG clinical laboratory standards for next-generation sequencing. (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)
• 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)
• Absolute quantification of somatic DNA alterations in human cancer. (2012)
• Along-tract statistics allow for enhanced tractography analysis. (2012)
• cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate. (2012)
• Detectable clonal mosaicism from birth to old age and its relationship to cancer. (2012)
• HLA typing from RNA-Seq sequence reads. (2012)
• Mechanisms and consequences of alternative polyadenylation. (2011)
• Genomic regions identified by overlapping clusters of nominally-positive SNPs from genome-wide studies of alcohol and illegal substance dependence. (2011)
• High-resolution mapping of copy-number alterations with massively parallel sequencing. (2009)
• An alcohol binding site on the neural cell adhesion molecule L1. (2008)
• 3' end mRNA processing: molecular mechanisms and implications for health and disease. (2008)

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