rare variant cohort
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Related entities (99)
Mentioned in (98)
Papers in which this entity is mentioned.
- Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis. (2026)
- MutBERT: probabilistic genome representation improves genomics foundation models. (2025)
- Genome-wide association testing beyond SNPs. (2025)
- Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder. (2025)
- A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies. (2025)
- Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank. (2024)
- Principles and methods for transferring polygenic risk scores across global populations. (2024)
- CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. (2024)
- Recent advances in polygenic scores: translation, equitability, methods and FAIR tools. (2024)
- A harmonized public resource of deeply sequenced diverse human genomes. (2024)
- A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies. (2023)
- Multiomic prioritisation of risk genes for anorexia nervosa. (2023)
- The Collaborative Study on the Genetics of Alcoholism: Overview. (2023)
- Multi-ancestry study of the genetics of problematic alcohol use in over 1 million individuals. (2023)
- The Genetic Architecture of Obsessive-Compulsive Disorder: Contribution of Liability to OCD From Alleles Across the Frequency Spectrum. (2022)
- A saturated map of common genetic variants associated with human height. (2022)
- Variant interpretation using population databases: Lessons from gnomAD. (2022)
- Mapping genomic loci implicates genes and synaptic biology in schizophrenia. (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)
- Shared genetic architecture across psychiatric disorders. (2021)
- A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline. (2021)
- Rapid genotype imputation from sequence with reference panels. (2021)
- Functionally informed fine-mapping and polygenic localization of complex trait heritability. (2020)
- Transcriptomic signatures across human tissues identify functional rare genetic variation. (2020)
- Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype. (2019)
- Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders. (2019)
- Rare variant phasing using paired tumor:normal sequence data. (2019)
- The mutational constraint spectrum quantified from variation in 141,456 humans (2019)
- Psychiatric Genomics: An Update and an Agenda. (2018)
- What Should a Psychiatrist Know About Genetics? Review and Recommendations From the Residency Education Committee of the International Society of Psychiatric Genetics. (2018)
- Genetic studies of alcohol dependence in the context of the addiction cycle. (2017)
- Imaging Genetics and Genomics in Psychiatry: A Critical Review of Progress and Potential. (2017)
- The impact of structural variation on human gene expression. (2017)
- Translating genome-wide association findings into new therapeutics for psychiatry. (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)
- REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. (2016)
- Alcohol Dependence Genetics: Lessons Learned From Genome-Wide Association Studies (GWAS) and Post-GWAS Analyses. (2015)
- Recent genetic findings in schizophrenia and their therapeutic relevance. (2015)
- A gene-based association method for mapping traits using reference transcriptome data. (2015)
- Dissecting ancestry genomic background in substance dependence genome-wide association studies. (2015)
- Clinical exome performance for reporting secondary genetic findings. (2015)
- A Genome-Wide Association Study of a Biomarker of Nicotine Metabolism. (2015)
- The human gene damage index as a gene-level approach to prioritizing exome variants. (2015)
- A global reference for human genetic variation. (2015)
- Evaluating historical candidate genes for schizophrenia. (2015)
- Genetics and genomics of psychiatric disease. (2015)
- A global reference for human genetic variation. (2015)
- Genetic linkage analysis in the age of whole-genome sequencing. (2015)
- 708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits. (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)
- Heritability and molecular-genetic basis of the P3 event-related brain potential: a genome-wide association study. (2014)
- Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants. (2014)
- Common DNA methylation alterations in multiple brain regions in autism. (2014)
- VariantDB: a flexible annotation and filtering portal for next generation sequencing data. (2014)
- In search of rare variants: preliminary results from whole genome sequencing of 1,325 individuals with psychophysiological endophenotypes. (2014)
- Common biological networks underlie genetic risk for alcoholism in African- and European-American populations. (2013)
- Prenatal alcohol exposure and offspring cognition and school performance. A 'Mendelian randomization' natural experiment. (2013)
- Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity. (2013)
- Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. (2013)
- A cross-platform analysis of 14,177 expression quantitative trait loci derived from lymphoblastoid cell lines. (2013)
- The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. (2013)
- Gene-environment interactions in cancer epidemiology: a National Cancer Institute Think Tank report. (2013)
- The genetics of alcohol dependence: advancing towards systems-based approaches. (2012)
- An integrated map of genetic variation from 1,092 human genomes. (2012)
- CNVs: harbingers of a rare variant revolution in psychiatric genetics. (2012)
- Annotation of functional variation in personal genomes using RegulomeDB. (2012)
- The genetic basis of alcoholism: multiple phenotypes, many genes, complex networks. (2012)
- The genetic basis of addictive disorders. (2012)
- Evolution and functional impact of rare coding variation from deep sequencing of human exomes. (2012)
- Genome-wide association study of primary open angle glaucoma risk and quantitative traits. (2012)
- Ultrasensitive detection of rare mutations using next-generation targeted resequencing. (2012)
- Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. (2012)
- Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011)
- Meta-analysis and genome-wide interpretation of genetic susceptibility to drug addiction. (2011)
- Uncovering hidden variance: pair-wise SNP analysis accounts for additional variance in nicotine dependence. (2011)
- Expanding the range of ZNF804A variants conferring risk of psychosis. (2011)
- Distribution of allele frequencies and effect sizes and their interrelationships for common genetic susceptibility variants. (2011)
- From genotype to EEG endophenotype: a route for post-genomic understanding of complex psychiatric disease? (2010)
- Statistical analysis strategies for association studies involving rare variants. (2010)
- Large copy-number variations are enriched in cases with moderate to extreme obesity. (2010)
- Genome-wide association studies in diverse populations. (2010)
- A new statistic to evaluate imputation reliability. (2010)
- The psychiatric GWAS consortium: big science comes to psychiatry. (2010)
- Gene--environment-wide association studies: emerging approaches. (2010)
- A groupwise association test for rare mutations using a weighted sum statistic. (2009)
- A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. (2009)
- Meta-analysis in genome-wide association studies. (2009)
- Finding the missing heritability of complex diseases. (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)
- Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept. (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)
- Common and rare variants in multifactorial susceptibility to common diseases. (2008)
- Genetic and environmental factors in complex neurodevelopmental disorders. (2007)
Merged raw entities (45)
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 |
|---|---|---|---|
| rare variants | variant | 74 | 140 |
| rare variant | variant | 40 | 75 |
| rare coding variants | variant | 5 | 5 |
| rare snps | variant | 5 | 8 |
| rare allele | variant | 4 | 5 |
| rare snp | variant | 3 | 5 |
| rare structural variants | variant | 3 | 3 |
| rare alleles | variant | 2 | 3 |
| rare genetic variant | variant | 2 | 2 |
| rare genetic variation | variant | 2 | 2 |
| <0.5% frequency variants | cohort | — | — |
| collapsed group of rare variants | cohort | — | — |
| collapsed sets of rare variants | cohort | — | — |
| copy number variants | cohort | — | — |
| heterogeneity model | cohort | — | — |
| individual rare variant | cohort | — | — |
| low frequency variant | cohort | — | — |
| low-frequency variant | cohort | — | — |
| low-frequency variants | cohort | — | — |
| low frequency variation | cohort | — | — |
| maf <0.5% variant | cohort | — | — |
| maf <1% variants | cohort | — | — |
| maf <5% | cohort | — | — |
| multiple rare variant model | cohort | — | — |
| multiple rare variants | cohort | — | — |
| rare (<0.5%) variants | cohort | — | — |
| rare addiction causal variants | cohort | — | — |
| rare alleles | cohort | — | — |
| rare causal variant | cohort | — | — |
| rare disease associated variant | cohort | — | — |
| rare events | cohort | — | — |
| rare genetic variants | cohort | — | — |
| rare penetrant variant | cohort | — | — |
| rarer variants | cohort | — | — |
| rare single nucleotide polymorphisms | cohort | — | — |
| rare snp | cohort | — | — |
| rare snps | cohort | — | — |
| rare variant | cohort | — | — |
| rare variant involvement | cohort | — | — |
| rare variant model | cohort | — | — |
| rare variants | cohort | — | — |
| rare variants of strong effect | cohort | — | — |
| rcvs | cohort | — | — |
| rvs | cohort | — | — |
| specific collections of rare variants | cohort | — | — |