Statistical analysis strategies for association studies involving rare variants

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Items 101–200 of 452

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2. Exome sequencing identifies novel rheumatoid arthritis-susceptible variants in the BTNL2
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3. Genome-wide association study and its applications in the non-model crop Sesamum indicum
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4. Integration of biological networks and pathways with genetic association studies
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5. Next-Generation Statistical Genetics: Modeling, Penalization, and Optimization in High-Dimensional Data
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6. Fine-Scale Patterns of Population Stratification Confound Rare Variant Association Tests
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7. Toll-like receptor gene polymorphisms are associated with allergic rhinitis: a case control study
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8. Incorporating model uncertainty in detecting rare variants: the Bayesian risk index
   Melanie A. Quintana, Berstein Jl, Duncan C. Thomas, David V. Conti · 2011 · Genetic Epidemiology
9. Confluence of genes, environment, development, and behavior in a post Genome-Wide Association Study world
   Scott I. Vrieze, William G. Iacono, Matt K. McGue · 2012 · Development and Psychopathology
10. Using Hamming Distance as Information for SNP-Sets Clustering and Testing in Disease Association Studies
    Charlotte I. Wang, Wen-Hsin Kao, Chuhsing Kate Hsiao · 2015 · PLoS ONE
11. Rare Genomic Structural Variants in Complex Disease: Lessons from the Replication of Associations with Obesity
    Robin G. Walters, Lachlan Coin, Aimo Ruokonen, Adam J. de Smith, Julia S. El-Sayed Moustafa, Sébastien Jacquemont, Paul Elliott, Tõnu Esko, Anna‐Liisa Hartikainen, Jaana H. Laitinen et al. · 2013 · PLoS ONE
12. Rare Nonsynonymous Exonic Variants in Addiction and Behavioral Disinhibition
    Scott I. Vrieze, Shuang Feng, Michael B. Miller, Brian M. Hicks, Nathan Pankratz, Gonçalo R. Abecasis, William G. Iacono, Matt K. McGue · 2013 · Biological Psychiatry
13. Genetic influences in childhood obesity: recent progress and recommendations for experimental designs
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14. Genetics of movement disorders in the next‐generation sequencing era
    Simone Olgiati, Marialuisa Quadri, Vincenzo Bonifati · 2016 · Movement Disorders
15. Identifying Rare Variants Associated with Complex Traits via Sequencing
    Bingshan Li, Dajiang J. Liu, Suzanne M. Leal · 2013 · Current Protocols in Human Genetics
16. Rare Variants in Ischemic Stroke: An Exome Pilot Study
    John W. Cole, Oscar Colin Stine, Xinyue Liu, Abhishek Pratap, Yu‐Ching Cheng, Luke J. Tallon, Lisa Sadzewicz, Nicole Dueker, Marcella A. Wozniak, Barney J. Stern et al. · 2012 · PLoS ONE
17. Genomic medicine and risk prediction across the disease spectrum
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18. Adjustment for Population Stratification via Principal Components in Association Analysis of Rare Variants
    Yiwei Zhang, Weihua Guan, Wei Pan · 2012 · Genetic Epidemiology
19. Advances in the genetic dissection of plant cell walls: tools and resources available in Miscanthus
    Gancho Slavov, Gordon G Allison, Maurice Bosch · 2013 · Frontiers in Plant Science
20. Epistasis analysis for quantitative traits by functional regression model
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21. Study Designs for Identification of Rare Disease Variants in Complex Diseases: The Utility of Family-Based Designs
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22. Optimum designs for next-generation sequencing to discover rare variants for common complex disease
    Gang Shi, D. C. Rao · 2011 · Genetic Epidemiology
23. Mining the LIPG Allelic Spectrum Reveals the Contribution of Rare and Common Regulatory Variants to HDL Cholesterol
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24. Genome-Wide Association Analyses in the Model Rhizobium Ensifer meliloti
    Brendan Epstein, Reda A.I. Abou-Shanab, Abdelaal Shamseldin, Margaret R. Taylor, Joseph G. Guhlin, Liana T. Burghardt, Matthew S. Nelson, Michael Jay Sadowsky, Peter Tiffin · 2018 · mSphere
25. Whole genome sequencing and rare variant analysis in essential tremor families
    Zagaa Odgerel, Shilpa Sonti, Nora C. Hernandez, Jemin Park, Ruth Ottman, Elan D. Louis, Lorraine N. Clark · 2019 · PLoS ONE
26. Rare and low-frequency variants in human common diseases and other complex traits
    Guillaume Lettre · 2014 · Journal of Medical Genetics
27. Assessing the Impact of Population Stratification on Association Studies of Rare Variation
    Yunxuan Jiang, Michael P. Epstein, Karen N. Conneely · 2013 · Human Heredity
28. Combining Family‐ and Population‐Based Imputation Data for Association Analysis of Rare and Common Variants in Large Pedigrees
    Mohamad Saad, Ellen M. Wijsman · 2014 · Genetic Epidemiology
29. Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families
    Andreas J. Forstner, Sascha B. Fischer, Lorena M. Schenk, Jana Strohmaier, Anna Maaser‐Hecker, Céline S. Reinbold, Sugirthan Sivalingam, Julian Hecker, Fabian Streit, Franziska Degenhardt et al. · 2020 · Translational Psychiatry
30. Resequencing Epithelial Sodium Channel Genes Identifies Rare Variants Associated With Blood Pressure Salt-Sensitivity: The GenSalt Study
    Xiaoying Gu, Dongfeng Gu, Jiang He, D. C. Rao, James E. Hixson, Jichun Chen, Jianxin Li, Jianfeng Huang, Xigui Wu, Treva Rice et al. · 2017 · American Journal of Hypertension
31. Osteoarthritis year 2011 in review: genetics
    Ingrid Meulenbelt · 2012 · Osteoarthritis and Cartilage
32. BRCA1/2-negative, high-risk breast cancers (BRCAX) for Asian women: genetic susceptibility loci and their potential impacts
    Jooyeon Lee, Jisun Kim, Sung-Won Kim, Sue K. Park, Sei Hyun Ahn, Min Hyuk Lee, Young Jin Suh, Dong-Young Noh, Byung Ho Son, Young Up Cho et al. · 2018 · Scientific Reports
33. Mendelian genes for Parkinson's disease contribute to the sporadic forms of the disease†
    Nino Spataro, Francesc Calafell, Laura Cervera‐Carles, Ferrán Casals, Javier Pagonabarraga, Berta Pascual‐Sedano, Antònia Campolongo, Jaime Kulisevsky, Alberto Lleó, Arcadi Navarro et al. · 2014 · Human Molecular Genetics
34. Likelihood Ratio Tests in Rare Variant Detection for Continuous Phenotypes
    Ping Zeng, Yang Zhao, Jin Liu, Liya Liu, Liwei Zhang, Ting Wang, Shuiping Huang, Feng Chen · 2014 · Annals of Human Genetics
35. More powerful genetic association testing via a new statistical framework for integrative genomics
    Zhao, Sihai D., Cai, T. Tony, Li, Hongzhe · 2014 · Biometrics
36. Identification of single nucleotide polymorphisms in genes involved in digestive and metabolic processes associated with feed efficiency and performance traits in beef cattle1,2
    Mohammed Kotb Abo-Ismail, Mathew Kelly, Eli James Squires, Kendall Carl Swanson, Steward Bauck, Steven Paul Miller · 2013 · Journal of Animal Science
37. Rare variants in TMEM132D in a case–control sample for panic disorder
    Carina Quast, André Altmann, Peter C Weber, Janine Arloth, Daniel M. Bader, Angela Heck, Hildegard Pfister, Bertram Müller‐Myhsok, Angelika Erhardt, Elisabeth B. Binder · 2012 · American Journal of Medical Genetics Part B Neuropsychiatric Genetics
38. Genome‐Wide Association Analysis of Imputed Rare Variants: Application to Seven Common Complex Diseases
    Reedik Mägi, Jennifer L. Asimit, Aaron Day-Williams, Eleftheria Zeggini, Andrew P. Morris · 2012 · Genetic Epidemiology
39. Clinical Implications of Human Population Differences in Genome-Wide Rates of Functional Genotypes
    Ali Torkamani, Phillip Pham, Ondrej Libiger, Vikas Bansal, Guangfa Zhang, Ashley A. Scott‐Van Zeeland, Ryan Tewhey, Eric J. Topol, Nicholas J. Schork · 2012 · Frontiers in Genetics
40. Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene
    Alexander G. Bassuk, Lakshmi B. Muthuswamy, R. Boland, T. L. Smith, Alissa M. Hulstrand, Hope Northrup, M. Hakeman, Jason M. Dierdorff, Christina K. Yung, A. Long et al. · 2012 · Human Molecular Genetics
41. Rare Variant Association Testing by Adaptive Combination of P-values
    Wan‐Yu Lin, Xiang‐Yang Lou, Guimin Gao, Nianjun Liu · 2014 · PLoS ONE
42. Functional annotation of genomic variants in studies of late-onset Alzheimer’s disease
    Mariusz Butkiewicz, Elizabeth Blue, Yuk Yee Leung, Xueqiu Jian, Edoardo M. Marcora, Alan Edward Renton, Amanda B Kuzma, Li-San Wang, Daniel C. Koboldt, Jonathan L. Haines et al. · 2018 · Bioinformatics
43. Deep sequencing of theLRRK2gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe
    Justin P. Rubio, Simon D. Topp, Liling L. Warren, Pamela L. St. Jean, Daniel Wegmann, Darren Kessner, John Novembre, Judong Shen, Dana J. Fraser, Jennifer L. Aponte et al. · 2012 · Human Mutation
44. Confounded by sequencing depth in association studies of rare alleles
    Chad P. Garner · 2011 · Genetic Epidemiology
45. Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease
    María Victoria Fernández, John Budde, Jorge L. Del‐Aguila, Laura Ibáñez, Yuetiva K. Deming, Oscar Harari, Joanne B. Norton, John C. Morris, Alison Goate, NIA-LOAD family study group et al. · 2018 · Frontiers in Neuroscience
46. Assessing multivariate gene-metabolome associations with rare variants using Bayesian reduced rank regression
    Pekka Marttinen, Matti Pirinen, Antti‐Pekka Sarin, Jussi Gillberg, Johannes Kettunen, Ida L. Surakka, Antti J. Kangas, Pasi Soininen, Paul F. O’Reilly, Marika Kaakinen et al. · 2014 · Bioinformatics
47. Statistical Guidance for Experimental Design and Data Analysis of Mutation Detection in Rare Monogenic Mendelian Diseases by Exome Sequencing
    Degui Zhi, Rui Chen · 2012 · PLoS ONE
48. Association analysis identifies ZNF750 regulatory variants in psoriasis
    Ramon Y. Birnbaum, Genki Hayashi, Idan Cohen, Annie Poon, Haoyan Chen, Ernest T. Lam, Pui–Yan Kwok, Ohad S. Birk, Wilson J. Liao · 2011 · BMC Medical Genetics
49. Smoothed functional principal component analysis for testing association of the entire allelic spectrum of genetic variation
    Li Luo, Yun Zhu, Momiao Xiong · 2012 · European Journal of Human Genetics
50. Region-Based Association Test for Familial Data under Functional Linear Models
    G. R. Svishcheva, Nadezhda M. Belonogova, Tatiana I. Axenovich · 2015 · PLoS ONE
51. Assessing the Impact of Differential Genotyping Errors on Rare Variant Tests of Association
    Morgan Mayer-Jochimsen, Shannon Fast, Nathan Tintle · 2013 · PLoS ONE
52. Real world scenarios in rare variant association analysis: the impact of imbalance and sample size on the power in silico
    Xinyuan Zhang, Anna Okula Basile, Sarah A. Pendergrass, Marylyn DeRiggi Ritchie · 2019 · BMC Bioinformatics
53. Investigation of the involvement of MIR185 and its target genes in the development of schizophrenia
    Andreas J. Forstner, Fitnat Buket Basmanav, Manuel Mattheisen, GROUP Investigators, Anne C. Böhmer, Mads V. Hollegaard, Esther Janson, Eric Strengman, Lutz Priebe, Franziska Degenhardt et al. · 2014 · Journal of Psychiatry and Neuroscience
54. A Hybrid Likelihood Model for Sequence-Based Disease Association Studies
    Yun-Ching Chen, Hannah K. Carter, Jennifer S. Parla, Melissa Kramer, Fernando S. Goes, Mehdi Pirooznia, Peter P. Zandi, William Richard McCombie, James B. Potash, Rachel Karchin · 2013 · PLoS Genetics
55. Renin, Genes, MicroRNAs, and Renal Mechanisms Involved in Hypertension
    Brian J. Morris · 2015 · Hypertension
56. Gene‐based mapping of trehalose biosynthetic pathway genes reveals association with source‐ and sink‐related yield traits in a spring wheat panel
    Danilo Hottis Lyra, Cara A. Griffiths, Amy Watson, Ryan Joynson, Gemma Molero, Alina‐Andrada Igna, Keywan Hassani‐Pak, Matthew Paul Reynolds, Anthony J W Hall, Matthew J. Paul · 2021 · Food and Energy Security
57. Bayesian longitudinal low-rank regression models for imaging genetic data from longitudinal studies
    Zhaohua Lu, Zakaria Khondker, Joseph G. Ibrahim, Yue Wang, Hongtu Zhu B · 2017 · NeuroImage
58. Two Adaptive Weighting Methods to Test for Rare Variant Associations in Family‐Based Designs
    Shurong Fang, Qiuying Sha, Shuanglin Zhang · 2012 · Genetic Epidemiology
59. In Silico Functional Annotation of Genomic Variation
    Mariusz Butkiewicz, William S. Bush · 2016 · Current Protocols in Human Genetics
60. Novel genetic susceptibility loci for diabetic end-stage renal disease identified through robust naive Bayes classification
    Francesco Sambo, The FinnDiane Study Group, Alberto L. Malovini, Niina Sandholm, Monica Stavarachi, Carol M. Forsblom, Ville‐Petteri Mäkinen, Valma Harjutsalo, Raija Lithovius, Daniel Gordin et al. · 2014 · Diabetologia
61. Rare and Low Frequency Variant Stratification in the UK Population: Description and Impact on Association Tests
    Marie‐Claude Babron, Marie de Tayrac, Douglas Neil Rutledge, Eleftheria Zeggini, Emmanuelle Génin · 2012 · PLoS ONE
62. The Genetic Architecture of Methotrexate Toxicity Is Similar in Drosophila melanogaster and Humans
    Galina Kislukhin, Elizabeth G. King, Kelli N Walters, Stuart J. Macdonald, Anthony D. Long · 2013 · G3 Genes Genomes Genetics
63. Mutations in sphingolipid metabolism genes are associated with ADHD
    Marcela Henríquez‐Henríquez, Maria T. Acosta, Ariel F. Martinez, Jorge Ivan Velez, Francisco Javier Lopera, David A. Pineda, Juan David Palacio, Teresa Quiroga, Tilla S. Worgall, Richard Joseph Deckelbaum et al. · 2020 · Translational Psychiatry
64. Integrating Rare-Variant Testing, Function Prediction, and Gene Network in Composite Resequencing-Based Genome-Wide Association Studies (CR-GWAS)
    Chengsong Zhu, Xianran Li, Jianming Yu · 2011 · G3 Genes Genomes Genetics
65. A Fast and Noise‐Resilient Approach to Detect Rare‐Variant Associations With Deep Sequencing Data for Complex Disorders
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66. Pathway‐Based Approaches for Sequencing‐Based Genome‐Wide Association Studies
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67. Use of Linkage Analysis, Genome-Wide Association Studies, and Next-Generation Sequencing in the Identification of Disease-Causing Mutations
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68. Population‐based and family‐based designs to analyze rare variants in complex diseases
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69. From sequence to function: Insights from natural variation in budding yeasts
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70. The Genetics of Sudden Cardiac Death
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71. The Impact of Copy Number Deletions on General Cognitive Ability and Ventricle Size in Patients with Schizophrenia and Healthy Control Subjects
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72. Methods for Collapsing Multiple Rare Variants in Whole‐Genome Sequence Data
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73. Power estimation and sample size determination for replication studies of genome-wide association studies
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74. Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3
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75. Annotating individual human genomes
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76. Design Considerations for Massively Parallel Sequencing Studies of Complex Human Disease
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77. Star Allele-Based Haplotyping versus Gene-Wise Variant Burden Scoring for Predicting 6-Mercaptopurine Intolerance in Pediatric Acute Lymphoblastic Leukemia Patients
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78. Multiple Regression Methods Show Great Potential for Rare Variant Association Tests
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79. On the association of common and rare genetic variation influencing body mass index: a combined SNP and CNV analysis
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80. Genotype imputation accuracy with different reference panels in admixed populations
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81. Genomic determinants of long-term cardiometabolic complications in childhood acute lymphoblastic leukemia survivors
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82. Controlling for human population stratification in rare variant association studies
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83. Lessons from genome‐wide association studies findings in Alzheimer's disease
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84. The Next Generation of Complex Lung Genetic Studies
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85. A Geometric Framework for Evaluating Rare Variant Tests of Association
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86. Progress in methods for rare variant association
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87. Phenome-Wide Association Studies: Embracing Complexity for Discovery
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88. From Genome-Wide Association Studies to Functional Genomics: New Insights Into Cardiovascular Disease
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89. Genetic Variation Underpinning ADHD Risk in a Caribbean Community
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90. Genome-wide Association Studies
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91. Functional Coding Variants in SLC6A15, a Possible Risk Gene for Major Depression
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92. Common and rare genetic markers of lipid variation in subjects with type 2 diabetes from the ACCORD clinical trial
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93. Novel exomic rare variants associated with venous thrombosis
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94. Predicting Signatures of “Synthetic Associations” and “Natural Associations” from Empirical Patterns of Human Genetic Variation
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95. Comprehensive evaluation of imputation performance in African Americans
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96. Single Nucleotide Polymorphism (SNP) Detection and Genotype Calling from Massively Parallel Sequencing (MPS) Data
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97. Handling the data management needs of high-throughput sequencing data: SpeedGene, a compression algorithm for the efficient storage of genetic data
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98. Permutation-based variance component test in generalized linear mixed model with application to multilocus genetic association study
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99. An evaluation of different meta-analysis approaches in the presence of allelic heterogeneity
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100. AN APPLICATION AND EMPIRICAL COMPARISON OF STATISTICAL ANALYSIS METHODS FOR ASSOCIATING RARE VARIANTS TO A COMPLEX PHENOTYPE
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