rare variant cohort

Aliases

<0.5% frequency variants, MAF <0.5% variant, MAF <1% variants, MAF <5%, RCVs, RVs, Rare variants, collapsed group of rare variants, collapsed sets of rare variants, copy number variants, heterogeneity model, individual rare variant, low frequency variant, low frequency variation, low-frequency variant, low-frequency variants, multiple rare variant model, multiple rare variants, rare (<0.5%) variants, rare SNP, rare SNPs, rare addiction causal variants, rare alleles, rare causal variant, rare disease associated variant, rare events, rare genetic variants, rare penetrant variant, rare single nucleotide polymorphisms, rare variant, rare variant involvement, rare variant model, rare variants, rare variants of strong effect, rare variation, rarer variants, specific collections of rare variants

Related entities (8)

Mentioned in (30)

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)
• The Collaborative Study on the Genetics of Alcoholism: Overview. (2023)
• Variant interpretation using population databases: Lessons from gnomAD. (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)
• Rapid genotype imputation from sequence with reference panels. (2021)
• Transcriptomic signatures across human tissues identify functional rare genetic variation. (2020)
• Rare variant phasing using paired tumor:normal sequence data. (2019)
• The mutational constraint spectrum quantified from variation in 141,456 humans (2019)
• The impact of structural variation on human gene expression. (2017)
• REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. (2016)
• A gene-based association method for mapping traits using reference transcriptome data. (2015)
• Clinical exome performance for reporting secondary genetic findings. (2015)
• The human gene damage index as a gene-level approach to prioritizing exome variants. (2015)
• A global reference for human genetic variation. (2015)
• Genetic linkage analysis in the age of whole-genome sequencing. (2015)
• Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants. (2014)
• VariantDB: a flexible annotation and filtering portal for next generation sequencing data. (2014)
• Common biological networks underlie genetic risk for alcoholism in African- and European-American populations. (2013)
• Ultrasensitive detection of rare mutations using next-generation targeted resequencing. (2012)
• A new statistic to evaluate imputation reliability. (2010)

Merged raw entities (45)

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