An evaluation of statistical approaches to rare variant analysis in genetic association studies

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Items 301–400 of 475

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2. Using Affected Sib-Pairs to Uncover Rare Disease Variants
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3. Design and Statistical Analysis of Pooled Next Generation Sequencing for Rare Variants
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4. Targeted next generation sequencing of the entire vitamin D receptor gene reveals polymorphisms correlated with vitamin D deficiency among older Filipino women with and without fragility fracture
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6. Association of Genes Involved in the Metabolic Pathways of Amyloid-β and Tau Proteins With Sporadic Late-Onset Alzheimer’s Disease in the Southern Han Chinese Population
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8. Region‐based association tests for sequencing data on survival traits
   Li‐Chu Chien, Donald W. Bowden, Yen‐Feng Chiu · 2017 · Genetic Epidemiology
9. Methods for adjusting population structure and familial relatedness in association test for collective effect of multiple rare variants on quantitative traits
   Qunyuan Zhang, Doyoung Chung, Aldi T. Kraja, Ingrid B. Borecki, Michael A. Province · 2011 · BMC Proceedings
10. Analysis and Optimal Design for Association Studies Using Next‐Generation Sequencing With Case‐Control Pools
    Wei E. Liang, Duncan C. Thomas, David V. Conti · 2012 · Genetic Epidemiology
11. Blocking Approach for Identification of Rare Variants in Family-Based Association Studies
    Asuman Turkmen, Shili Lin · 2014 · PLoS ONE
12. Rare variant association tests for ancestry-matched case-control data based on conditional logistic regression
    Shanshan Cheng, Jingjing Lyu, Xian Shi, Kai Wang, Zengmiao Wang, Minghua Deng, Baoluo Sun, Chaolong Wang · 2021 · Briefings in Bioinformatics
13. Rare host variants in ciliary expressed genes contribute to COVID-19 severity in Bulgarian patients
    Kunka Kamenarova, Darina Kachakova, Magdalena Petrova Baymakova, Martin Georgiev, Kalina Yonkova Mihova, Veronika Petkova, Olga Beltcheva, Radka M. Argirova, Petar Yordanov Atanasov, Metodi Kunchev et al. · 2024 · Scientific Reports
14. Rare variant density across the genome and across populations
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15. A Unified Method for Detecting Secondary Trait Associations with Rare Variants: Application to Sequence Data
    Dajiang J. Liu, Suzanne M. Leal · 2012 · PLoS Genetics
16. A LASSO-based approach to analyzing rare variants in genetic association studies
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17. ABACUS: an entropy-based cumulative bivariate statistic robust to rare variants and different direction of genotype effect
    Barbara Di Camillo, Francesco Sambo, GIANNA MARIA TOFFOLO, Claudio Cobelli · 2013 · Bioinformatics
18. Bootstrap Restricted Likelihood Ratio Test for the Detection of Rare Variants
    Ping Zeng, Ting Wang · 2015 · Current Genomics
19. Meta-analysis of quantitative pleiotropic traits for next-generation sequencing with multivariate functional linear models
    Chi‐Yang Chiu, Jeesun Jung, Wei Chen, Daniel E. Weeks, Haobo Ren, Michael Boehnke, Christopher Ian Amos, Aiyi Liu, James L. Mills, Mei‐Ling Ting Lee et al. · 2016 · European Journal of Human Genetics
20. Testing cross‐phenotype effects of rare variants in longitudinal studies of complex traits
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21. An integrative association method for omics data based on a modified Fisher’s method with application to childhood asthma
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22. Improved score statistics for meta‐analysis in single‐variant and gene‐level association studies
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23. Detecting X‐linked common and rare variant effects in family‐based sequencing studies
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24. Reproducible Simulations of Realistic Samples for Next‐Generation Sequencing Studies Using Variant Simulation Tools
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25. On the substructure controls in rare variant analysis: Principal components or variance components?
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26. Assessing Rare Variation in Complex Traits
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27. Recent developments in statistical methods for GWAS and high-throughput sequencing association studies of complex traits
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28. Gene‐based association analysis of survival traits via functional regression‐based mixed effect cox models for related samples
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29. Does Accounting for Gene-Environment Interactions Help Uncover Association between Rare Variants and Complex Diseases?
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30. Identifying rare disease variants in the Genetic Analysis Workshop 17 simulated data: a comparison of several statistical approaches
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31. Generalization of Rare Variant Association Tests for Longitudinal Family Studies
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32. Genetics of Idiopathic Scoliosis
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33. Small sample properties of rare variant analysis methods
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34. Meta-analysis of set-based multiple phenotype association test based on GWAS summary statistics from different cohorts
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35. Trans-Ethnic Fine-Mapping of Rare Causal Variants
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36. Two‐Phase Stratified Sampling Designs for Regional Sequencing
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37. Adaptive Combination of P-Values for Family-Based Association Testing with Sequence Data
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38. Simultaneous Analysis of Common and Rare Variants in Complex Traits: Application to SNPs (SCARVAsnp)
    Guanjie Chen, Ao Yuan, Yanxun Zhou, Amy R. Bentley, Jie Zhou, Weiping Chen, Daniel Shriner, Adebowale Adeyemo, Charles N. Rotimi · 2012 · Bioinformatics and Biology Insights
39. Comparative study of statistical methods for detecting association with rare variants in exome-resequencing data
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40. Whole genome sequence analysis of the simulated systolic blood pressure in Genetic Analysis Workshop 18 family data: long-term average and collapsing methods
    Yun Ju Sung, Jacob Basson, D. C. Rao · 2014 · BMC Proceedings
41. Detecting the Genomic Signature of Divergent Selection in Presence of Gene Flow
    M. J. Rivas, Sara Domínguez-García, Antonio Carvajal‐Rodríguez · 2015 · Current Genomics
42. Genomic approaches to explore susceptibility and pathogenesis of alcohol use disorder and alcohol-associated liver disease
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43. Insights into blood lipids from rare variant discovery
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44. Joint association analysis of bivariate quantitative and qualitative traits
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45. Application of collapsing methods for continuous traits to the Genetic Analysis Workshop 17 exome sequence data
    Yun Ju Sung, Treva Rice, D. C. Rao · 2011 · BMC Proceedings
46. Comparison of collapsing methods for the statistical analysis of rare variants
    Carmen Dering, Andreas Ziegler, Inke Regina König, Claudia Hemmelmann · 2011 · BMC Proceedings
47. Regression and data mining methods for analyses of multiple rare variants in the Genetic Analysis Workshop 17 mini‐exome data
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48. Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project
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49. Spatial clustering of linkage disequilibrium blocks for genome-wide association studies
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50. Gene Region Association Analysis of Longitudinal Quantitative Traits Based on a Function-On-Function Regression Model
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51. Rare-variant association studies: When are aggregation tests more powerful than single-variant tests?
    Debraj Bose, Christian Fuchsberger, Michael Boehnke · 2025 · The American Journal of Human Genetics
52. cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions
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53. Genomic Association Screening Methodology for High-Dimensional and Complex Data Structures: Detecting n-Order Interactions
    Jestinah Mahachie John · 2012
54. Secondary Analysis of Publicly Available Data Reveals Superoxide and Oxygen Radical Pathways are Enriched for Associations Between Type 2 Diabetes and Low‐Frequency Variants
    Mojgan Yazdanpanah, Chuhua Chen, Jinko Graham · 2013 · Annals of Human Genetics
55. Addition of multiple rare SNPs to known common variants improves the association between disease and gene in the Genetic Analysis Workshop 17 data
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56. Improved power by collapsing rare and common variants based on a data-adaptive forward selection strategy
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57. Cloud Computing Based Immunopeptidomics Utilizing Community Curated Variant Libraries Simplifies and Improves Neo-Antigen Discovery in Metastatic Melanoma
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58. Incorporating Prior Knowledge to Increase the Power of Genome-Wide Association Studies
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59. Higher-order genetic interaction discovery with network-based biological priors
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60. Excalibur: A new ensemble method based on an optimal combination of aggregation tests for rare-variant association testing for sequencing data
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61. Group association test using a hidden Markov model
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62. A non-threshold region-specific method for detecting rare variants in complex diseases
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63. Family-based association tests for rare variants with censored traits
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64. Mutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological Sense
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65. Rare Variant Association Testing for Next-Generation Sequencing Data via Hierarchical Clustering
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66. A Novel Support Vector Machine-Based Approach for Rare Variant Detection
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67. A Novel Approach for the Simultaneous Analysis of Common and Rare Variants in Complex Traits
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68. Prioritizing Rare Variants with Conditional Likelihood Ratios
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69. Association Mapping and Disease: Evolutionary Perspectives
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70. A tree‐based gene–environment interaction analysis with rare features
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71. Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer
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72. Efficient identification of rare variants in large populations: deep re-sequencing the CRP locus in the CARDIA study
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73. Genetic Association Study Design
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76. Identifying rare variants for quantitative traits in extreme samples of population via Kullback-Leibler distance
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77. A Varying Coefficient Model to Jointly Test Genetic and Gene–Environment Interaction Effects
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78. Comparing healthcare utilization patterns via global differences in the endorsement of current procedural terminology codes
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79. Leveraging population information in family‐based rare variant association analyses of quantitative traits
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80. Rare Variant Testing of Imputed Data: An Analysis Pipeline Typified
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81. Functional linear models for region-based association analysis
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82. A new statistical framework for genetic pleiotropic analysis of high dimensional phenotype data
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83. A Novel Genome-Information Content-Based Statistic for Genome-Wide Association Analysis Designed for Next-Generation Sequencing Data
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84. Genetics in Asthma and COPD
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85. Rare functional variants in the CRP and G6PC genes modify the relationship between obesity and serum C‐reactive protein in white British population
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86. Dynamic Bayesian Testing of Sets of Variants in Complex Diseases
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87. Precisely modeling zero‐inflated count phenotype for rare variants
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88. Antihistamines (H1 Receptor Antagonists)
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89. Rare variants analysis by risk-based variable-threshold method
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90. A weighted accumulation test for associating rare genetic variation with quantitative phenotypes
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91. Novel tree-based method to generate markers from rare variant data
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92. Rare variant collapsing in conjunction with mean log p-value and gradient boosting approaches applied to Genetic Analysis Workshop 17 data
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93. Identification of functional rare variants in genome-wide association studies using stability selection based on random collapsing
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94. Two-stage analyses of sequence variants in association with quantitative traits
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95. BETASEQ: a powerful novel method to control type-I error inflation in partially sequenced data for rare variant association testing
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96. Identifying rare and common variants with Bayesian variable selection
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97. Longitudinal data analysis for rare variants detection with penalized quadratic inference function
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98. Sequence Analysis of Drug Target Genes with Suicidal Behavior in Bipolar Disorder Patients
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99. Evaluating the role of rare genetic variation in sleep duration
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100. Using Genomic Data to Find Disease-Modifying Loci in Huntington’s Disease (HD)
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