variant cohort
Evidence from:
primary |
all sources
Related entities (17)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| DNA microarrays | interacts_with | variant | — | 1 |
| variant | associated_with | accuracy | — | 1 |
| variant | associated_with | auditory | — | 1 |
| variant | associated_with | cancer | — | 1 |
| variant | regulates | candidate genes | — | 1 |
| variant | associated_with | cigarettes | — | 1 |
| variant | interacts_with | environmental exposures | — | 1 |
| variant | associated_with | EUR | — | 1 |
| variant | associated_with | gene | — | 1 |
| variant | associated_with | general population | — | 1 |
| variant | associated_with | heavy drinking | — | 1 |
| variant | associated_with | light smokers | — | 1 |
| variant | associated_with | PAU | — | 1 |
| variant | associated_with | probands | — | 1 |
| variant | associated_with | smoking behaviour | — | 1 |
| variant | associated_with | substance use | — | 1 |
| variant | protective_against | unipolar depression | — | 1 |
Mentioned in (101)
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)
- MutBERT: probabilistic genome representation improves genomics foundation models. (2025)
- Massively parallel reporter assay investigates shared genetic variants of eight psychiatric disorders. (2025)
- Functional analysis of cancer-associated germline risk variants. (2025)
- Multiple overlapping binding sites determine transcription factor occupancy. (2025)
- ConsensuSV-ONT - A modern method for accurate structural variant calling. (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)
- Improving polygenic risk prediction in admixed populations by explicitly modeling ancestral-differential effects via GAUDI. (2024)
- Tumor-informed deep sequencing of ctDNA detects minimal residual disease and predicts relapse in osteosarcoma. (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)
- CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. (2024)
- Transient loss of Polycomb components induces an epigenetic cancer fate. (2024)
- Recent advances in polygenic scores: translation, equitability, methods and FAIR tools. (2024)
- Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR. (2024)
- Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme. (2024)
- A harmonized public resource of deeply sequenced diverse human genomes. (2024)
- Pitfalls of predicting age-related traits by polygenic risk scores. (2023)
- Multi-ancestry study of the genetics of problematic alcohol use in over 1 million individuals. (2023)
- Genetic Influences on the Developing Young Brain and Risk for Neuropsychiatric Disorders. (2023)
- GenSLMs: Genome-scale language models reveal SARS-CoV-2 evolutionary dynamics. (2022)
- Variant interpretation using population databases: Lessons from gnomAD. (2022)
- Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers. (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)
- kataegis: an R package for identification and visualization of the genomic localized hypermutation regions using high-throughput sequencing. (2021)
- UMI-linked consensus sequencing enables phylogenetic analysis of directed evolution. (2020)
- SVXplorer: Three-tier approach to identification of structural variants via sequential recombination of discordant cluster signatures. (2020)
- Inferring structural variant cancer cell fraction. (2020)
- Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks. (2020)
- Genome-wide meta-analysis of problematic alcohol use in 435,563 individuals yields insights into biology and relationships with other traits. (2020)
- Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing. (2020)
- Sex differences in the genetic architecture of obsessive-compulsive disorder. (2019)
- Rare variant phasing using paired tumor:normal sequence data. (2019)
- The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment. (2019)
- Best practices for bioinformatic characterization of neoantigens for clinical utility. (2019)
- Pan-cancer whole-genome analyses of metastatic solid tumours. (2019)
- Alcohol and endogenous aldehydes damage chromosomes and mutate stem cells. (2018)
- Enter the Matrix: Factorization Uncovers Knowledge from Omics. (2018)
- What Should a Psychiatrist Know About Genetics? Review and Recommendations From the Residency Education Committee of the International Society of Psychiatric Genetics. (2018)
- Genome-wide somatic variant calling using localized colored de Bruijn graphs. (2018)
- Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. (2018)
- Human Genetics of Addiction: New Insights and Future Directions. (2018)
- Random forest versus logistic regression: a large-scale benchmark experiment. (2018)
- Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. (2018)
- Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome. (2018)
- GAVIN: Gene-Aware Variant INterpretation for medical sequencing. (2017)
- Genetic effects on gene expression across human tissues. (2017)
- Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. (2017)
- A method to reduce ancestry related germline false positives in tumor only somatic variant calling. (2017)
- De Novo Coding Variants Are Strongly Associated with Tourette Disorder. (2017)
- The impact of structural variation on human gene expression. (2017)
- Fast and Accurate Genomic Analyses using Genome Graphs (2017)
- Integrated digital error suppression for improved detection of circulating tumor DNA. (2016)
- GeneiASE: Detection of condition-dependent and static allele-specific expression from RNA-seq data without haplotype information. (2016)
- Somatic cancer variant curation and harmonization through consensus minimum variant level data. (2016)
- The clinical trial landscape in oncology and connectivity of somatic mutational profiles to targeted therapies. (2016)
- Detecting Genomic Signatures of Natural Selection with Principal Component Analysis: Application to the 1000 Genomes Data. (2016)
- The National Birth Defects Prevention Study: A review of the methods. (2015)
- The human gene damage index as a gene-level approach to prioritizing exome variants. (2015)
- A global reference for human genetic variation. (2015)
- Genomic influences on alcohol problems in a population-based sample of young adults. (2015)
- A global reference for human genetic variation. (2015)
- The use of exome capture RNA-seq for highly degraded RNA with application to clinical cancer sequencing. (2015)
- Genetic linkage analysis in the age of whole-genome sequencing. (2015)
- MBASED: allele-specific expression detection in cancer tissues and cell lines. (2014)
- RADIA: RNA and DNA integrated analysis for somatic mutation detection. (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)
- VariantDB: a flexible annotation and filtering portal for next generation sequencing data. (2014)
- The genomic landscape of the Ewing Sarcoma family of tumors reveals recurrent STAG2 mutation. (2014)
- A general approach for haplotype phasing across the full spectrum of relatedness. (2014)
- Polygenic risk scores for smoking: predictors for alcohol and cannabis use? (2014)
- Defective insulin secretory response to intravenous glucose in C57Bl/6J compared to C57Bl/6N mice. (2014)
- Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (2013)
- Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal. (2013)
- ACMG clinical laboratory standards for next-generation sequencing. (2013)
- Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. (2013)
- A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains. (2013)
- The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. (2013)
- Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. (2013)
- Genic intolerance to functional variation and the interpretation of personal genomes. (2013)
- Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned. (2012)
- An integrated map of genetic variation from 1,092 human genomes. (2012)
- Ultrasensitive detection of rare mutations using next-generation targeted resequencing. (2012)
- DELLY: structural variant discovery by integrated paired-end and split-read analysis. (2012)
- VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. (2012)
- Genetic polymorphisms in 15q25 and 19q13 loci, cotinine levels, and risk of lung cancer in EPIC. (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 study identifies genes that may contribute to risk for developing heroin addiction. (2010)
- The genetic interpretation of area under the ROC curve in genomic profiling. (2010)
- BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. (2009)
- Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. (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)
- Meta-analysis in genome-wide association studies. (2009)
- Common and rare variants in multifactorial susceptibility to common diseases. (2008)
- Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. (2008)
Merged raw entities (6)
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 |
|---|---|---|---|
| variant | variant | 73 | 123 |
| variants | variant | 33 | 43 |
| n | cohort | 4 | 19 |
| directly-typed variant | cohort | — | — |
| imputed variant | cohort | — | — |
| variant | cohort | — | — |