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Publications

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Genetic Predisposition to Disease
West, Rachel Marceau, Wenbin Lu, Daniel M. Rotroff, Melaine A. Kuenemann, Sheng-Mao Chang, Michael C. Wu, Michael J. Wagner, John B. Buse, Alison A. Motsinger-Reif, Denis Fourches et al. "Identifying individual risk rare variants using protein structure guided local tests (POINT)." PLoS Comput Biol 15, no. 2 (2019): e1006722.
R Baldwin, Michael, Kouros Owzar, Hitoshi Zembutsu, Aparna Chhibber, Michiaki Kubo, Chen Jiang, Dorothy Watson, Rachel J. Eclov, Joel Mefford, Howard L. McLeod et al. "A genome-wide association study identifies novel loci for paclitaxel-induced sensory peripheral neuropathy in CALGB 40101." Clin Cancer Res 18, no. 18 (2012): 5099-109.
Chen, Yong, Haitao Chu, Sheng Luo, Lei Nie, and Sining Chen. "Bayesian analysis on meta-analysis of case-control studies accounting for within-study correlation." Stat Methods Med Res 24, no. 6 (2015): 836-55.
Owzar, Kouros, Zhiguo Li, Nancy Cox, and Sin-Ho Jung. "Power and sample size calculations for SNP association studies with censored time-to-event outcomes." Genet Epidemiol 36, no. 6 (2012): 538-48.
Tzeng, Jung-Ying, Patrik K. E. Magnusson, Patrick F. Sullivan, and Jin P. Szatkiewicz. "A New Method for Detecting Associations with Rare Copy-Number Variants." PLoS Genet 11, no. 10 (2015): e1005403.
Brucker, Amanda, Wenbin Lu, Rachel Marceau West, Qi-You Yu, Chuhsing Kate Hsiao, Tzu-Hung Hsiao, Ching-Heng Lin, Patrik K. E. Magnusson, Patrick F. Sullivan, Jin P. Szatkiewicz et al. "Association test using Copy Number Profile Curves (CONCUR) enhances power in rare copy number variant analysis." PLoS Comput Biol 16, no. 5 (2020): e1007797.
Knickmeyer, Rebecca C., Jiaping Wang, Hongtu Zhu, Xiujuan Geng, Sandra Woolson, Robert M. Hamer, Thomas Konneker, Weili Lin, Martin Styner, and John H. Gilmore. "Common variants in psychiatric risk genes predict brain structure at birth." Cereb Cortex 24, no. 5 (2014): 1230-46.
Pang, Herbert, Michael Hauser, and Stéphane Minvielle. "Pathway-based identification of SNPs predictive of survival." Eur J Hum Genet 19, no. 6 (2011): 704-9.
Wang, Zhi, Arnab Maity, Yiwen Luo, Megan L. Neely, and Jung-Ying Tzeng. "Complete effect-profile assessment in association studies with multiple genetic and multiple environmental factors." Genet Epidemiol 39, no. 2 (2015): 122-33.
Jeng, Xinge Jessie, Zhongyin John Daye, Wenbin Lu, and Jung-Ying Tzeng. "Rare Variants Association Analysis in Large-Scale Sequencing Studies at the Single Locus Level." PLoS Comput Biol 12, no. 6 (2016): e1004993.
"Genome-wide association study identifies five new schizophrenia loci." Nat Genet 43, no. 10 (2011): 969-76.
Genetic Variation
Tang, Zheng-Zheng, and Dan-Yu Lin. "MASS: meta-analysis of score statistics for sequencing studies." Bioinformatics 29, no. 14 (2013): 1803-5.
Wang, Charlotte, Jung-Ying Tzeng, Pei-Zhen Wu, Martin Preisig, and Chuhsing Kate Hsiao. "Reexamining Dis/Similarity-Based Tests for Rare-Variant Association with Case-Control Samples." Genetics 209, no. 1 (2018): 105-113.
Luo, Yiwen, Arnab Maity, Michael C. Wu, Chris Smith, Qing Duan, Yun Li, and Jung-Ying Tzeng. "On the substructure controls in rare variant analysis: Principal components or variance components?" Genet Epidemiol 42, no. 3 (2018): 276-287.
He, Qianchuan, Christy L. Avery, and Dan-Yu Lin. "A general framework for association tests with multivariate traits in large-scale genomics studies." Genet Epidemiol 37, no. 8 (2013): 759-67.
Hu, Y J., and D Y. Lin. "Analysis of untyped SNPs: maximum likelihood and imputation methods." Genet Epidemiol 34, no. 8 (2010): 803-15.
Marceau, Rachel, Wenbin Lu, Shannon Holloway, Michèle M. Sale, Bradford B. Worrall, Stephen R. Williams, Fang-Chi Hsu, and Jung-Ying Tzeng. "A Fast Multiple-Kernel Method With Applications to Detect Gene-Environment Interaction." Genet Epidemiol 39, no. 6 (2015): 456-68.
Tang, Zheng-Zheng, Paul Bunn, Ran Tao, Zhouwen Liu, and Dan-Yu Lin. "PreMeta: a tool to facilitate meta-analysis of rare-variant associations." BMC Genomics 18, no. 1 (2017): 160.
Hu, Yi-Juan, Sonja I. Berndt, Stefan Gustafsson, Andrea Ganna, Joel Hirschhorn, Kari E. North, Erik Ingelsson, and Dan-Yu Lin. "Meta-analysis of gene-level associations for rare variants based on single-variant statistics." Am J Hum Genet 93, no. 2 (2013): 236-48.
Acharya, Chaitanya R., Janice M. McCarthy, Kouros Owzar, and Andrew S. Allen. "Exploiting expression patterns across multiple tissues to map expression quantitative trait loci." BMC Bioinformatics 17 (2016): 257.
Knickmeyer, Rebecca C., Jiaping Wang, Hongtu Zhu, Xiujuan Geng, Sandra Woolson, Robert M. Hamer, Thomas Konneker, Weili Lin, Martin Styner, and John H. Gilmore. "Common variants in psychiatric risk genes predict brain structure at birth." Cereb Cortex 24, no. 5 (2014): 1230-46.
Tang, Zheng-Zheng, and Dan-Yu Lin. "Meta-analysis for Discovering Rare-Variant Associations: Statistical Methods and Software Programs." Am J Hum Genet 97, no. 1 (2015): 35-53.
West, Rachel Marceau, Wenbin Lu, Daniel M. Rotroff, Melaine A. Kuenemann, Sheng-Mao Chang, Michael C. Wu, Michael J. Wagner, John B. Buse, Alison A. Motsinger-Reif, Denis Fourches et al. "Identifying individual risk rare variants using protein structure guided local tests (POINT)." PLoS Comput Biol 15, no. 2 (2019): e1006722.
Brucker, Amanda, Wenbin Lu, Rachel Marceau West, Qi-You Yu, Chuhsing Kate Hsiao, Tzu-Hung Hsiao, Ching-Heng Lin, Patrik K. E. Magnusson, Patrick F. Sullivan, Jin P. Szatkiewicz et al. "Association test using Copy Number Profile Curves (CONCUR) enhances power in rare copy number variant analysis." PLoS Comput Biol 16, no. 5 (2020): e1007797.
Genome, Human
McLeod, Howard L.. "Cancer pharmacogenomics: early promise, but concerted effort needed." Science 339, no. 6127 (2013): 1563-6.
He, Qianchuan, Christy L. Avery, and Dan-Yu Lin. "A general framework for association tests with multivariate traits in large-scale genomics studies." Genet Epidemiol 37, no. 8 (2013): 759-67.
Soneson, Charlotte, Michael I. Love, Rob Patro, Shobbir Hussain, Dheeraj Malhotra, and Mark D. Robinson. "A junction coverage compatibility score to quantify the reliability of transcript abundance estimates and annotation catalogs." Life Sci Alliance 2, no. 1 (2019).
Zhang, Xiang, Shunping Huang, Wei Sun, and Wei Wang. "Rapid and robust resampling-based multiple-testing correction with application in a genome-wide expression quantitative trait loci study." Genetics 190, no. 4 (2012): 1511-20.
Hu, Y J., and D Y. Lin. "Analysis of untyped SNPs: maximum likelihood and imputation methods." Genet Epidemiol 34, no. 8 (2010): 803-15.
Zhang, Xiang, Shunping Huang, Fei Zou, and Wei Wang. "TEAM: efficient two-locus epistasis tests in human genome-wide association study." Bioinformatics 26, no. 12 (2010): i217-27.
Wang, Xuefeng, Mengjie Chen, Xiaoqing Yu, Natapol Pornputtapong, Hao Chen, Nancy R. Zhang, Scott R Powers, and Michael Krauthammer. "Global copy number profiling of cancer genomes." Bioinformatics 32, no. 6 (2016): 926-8.
Wang, Rujin, Dan-Yu Lin, and Yuchao Jiang. "SCOPE: A Normalization and Copy-Number Estimation Method for Single-Cell DNA Sequencing." Cell Syst 10, no. 5 (2020): 445-452.e6.
Yazdani, Azam, Akram Yazdani, Sarah H. Elsea, Daniel J. Schaid, Michael R. Kosorok, Gita Dangol, and Ahmad Samiei. "Genome analysis and pleiotropy assessment using causal networks with loss of function mutation and metabolomics." BMC Genomics 20, no. 1 (2019): 395.
Brucker, Amanda, Wenbin Lu, Rachel Marceau West, Qi-You Yu, Chuhsing Kate Hsiao, Tzu-Hung Hsiao, Ching-Heng Lin, Patrik K. E. Magnusson, Patrick F. Sullivan, Jin P. Szatkiewicz et al. "Association test using Copy Number Profile Curves (CONCUR) enhances power in rare copy number variant analysis." PLoS Comput Biol 16, no. 5 (2020): e1007797.
Lin, Dan-Yu. "A simple and accurate method to determine genomewide significance for association tests in sequencing studies." Genet Epidemiol 43, no. 4 (2019): 365-372.
"Genome-wide association study identifies five new schizophrenia loci." Nat Genet 43, no. 10 (2011): 969-76.
Genome-Wide Association Study
Owzar, Kouros, Zhiguo Li, Nancy Cox, and Sin-Ho Jung. "Power and sample size calculations for SNP association studies with censored time-to-event outcomes." Genet Epidemiol 36, no. 6 (2012): 538-48.
Bhattacharya, Arjun, Montserrat García-Closas, Andrew F. Olshan, Charles M. Perou, Melissa A. Troester, and Michael I. Love. "A framework for transcriptome-wide association studies in breast cancer in diverse study populations." Genome Biol 21, no. 1 (2020): 42.
Jusakul, Apinya, Ioana Cutcutache, Chern Han Yong, Jing Quan Lim, Mi Ni Huang, Nisha Padmanabhan, Vishwa Nellore, Sarinya Kongpetch, Alvin Wei Tian Ng, Ley Moy Ng et al. "Whole-Genome and Epigenomic Landscapes of Etiologically Distinct Subtypes of Cholangiocarcinoma." Cancer Discov 7, no. 10 (2017): 1116-1135.
Wang, Zhi, Arnab Maity, Yiwen Luo, Megan L. Neely, and Jung-Ying Tzeng. "Complete effect-profile assessment in association studies with multiple genetic and multiple environmental factors." Genet Epidemiol 39, no. 2 (2015): 122-33.
Zhang, Xiang, Shunping Huang, Fei Zou, and Wei Wang. "TEAM: efficient two-locus epistasis tests in human genome-wide association study." Bioinformatics 26, no. 12 (2010): i217-27.
Tzeng, Jung-Ying, Patrik K. E. Magnusson, Patrick F. Sullivan, and Jin P. Szatkiewicz. "A New Method for Detecting Associations with Rare Copy-Number Variants." PLoS Genet 11, no. 10 (2015): e1005403.
Lin, D Y., and D Zeng. "Meta-analysis of genome-wide association studies: no efficiency gain in using individual participant data." Genet Epidemiol 34, no. 1 (2010): 60-6.
He, Qianchuan, Hao Helen Zhang, Christy L. Avery, and D Y. Lin. "Sparse meta-analysis with high-dimensional data." Biostatistics 17, no. 2 (2016): 205-20.
Mitha, Faheem, Herodotos Herodotou, Nedyalko Borisov, Chen Jiang, Josh Yoder, and Kouros Owzar. "SNPpy--database management for SNP data from genome wide association studies." PLoS One 6, no. 10 (2011): e24982.
R Baldwin, Michael, Kouros Owzar, Hitoshi Zembutsu, Aparna Chhibber, Michiaki Kubo, Chen Jiang, Dorothy Watson, Rachel J. Eclov, Joel Mefford, Howard L. McLeod et al. "A genome-wide association study identifies novel loci for paclitaxel-induced sensory peripheral neuropathy in CALGB 40101." Clin Cancer Res 18, no. 18 (2012): 5099-109.
He, Qianchuan, Christy L. Avery, and Dan-Yu Lin. "A general framework for association tests with multivariate traits in large-scale genomics studies." Genet Epidemiol 37, no. 8 (2013): 759-67.
Maity, Arnab, Patrick F. Sullivan, and Jun-Ying Tzeng. "Multivariate phenotype association analysis by marker-set kernel machine regression." Genet Epidemiol 36, no. 7 (2012): 686-95.
He, Qianchuan, and Dan-Yu Lin. "A variable selection method for genome-wide association studies." Bioinformatics 27, no. 1 (2011): 1-8.
Kim, Jinseog, Insuk Sohn, Dae-Soon Son, Dong Hwan Kim, Taejin Ahn, and Sin-Ho Jung. "Prediction of a time-to-event trait using genome wide SNP data." BMC Bioinformatics 14 (2013): 58.
Lin, Dan-Yu, and Zheng-Zheng Tang. "A general framework for detecting disease associations with rare variants in sequencing studies." Am J Hum Genet 89, no. 3 (2011): 354-67.
Lee, Mei-Hsien, Jung-Ying Tzeng, Su-Yun Huang, and Chuhsing Kate Hsiao. "Combining an evolution-guided clustering algorithm and haplotype-based LRT in family association studies." BMC Genet 12 (2011): 48.
Hu, Yi-Juan, Sonja I. Berndt, Stefan Gustafsson, Andrea Ganna, Joel Hirschhorn, Kari E. North, Erik Ingelsson, and Dan-Yu Lin. "Meta-analysis of gene-level associations for rare variants based on single-variant statistics." Am J Hum Genet 93, no. 2 (2013): 236-48.
Acharya, Chaitanya R., Janice M. McCarthy, Kouros Owzar, and Andrew S. Allen. "Exploiting expression patterns across multiple tissues to map expression quantitative trait loci." BMC Bioinformatics 17 (2016): 257.
Chua, Katherina C., Chenling Xiong, Carol Ho, Taisei Mushiroda, Chen Jiang, Flora Mulkey, Dongbing Lai, Bryan P. Schneider, Sara R. Rashkin, John S. Witte et al. "Genomewide Meta-Analysis Validates a Role for S1PR1 in Microtubule Targeting Agent-Induced Sensory Peripheral Neuropathy." Clin Pharmacol Ther 108, no. 3 (2020): 625-634.
Pang, Herbert, and Sin-Ho Jung. "Sample size considerations of prediction-validation methods in high-dimensional data for survival outcomes." Genet Epidemiol 37, no. 3 (2013): 276-82.
Li, Zhiguo, Jiaxing Lin, Alexander B. Sibley, Tracy Truong, Katherina C. Chua, Yu Jiang, Janice McCarthy, Deanna L. Kroetz, Andrew Allen, and Kouros Owzar. "Efficient estimation of grouped survival models." BMC Bioinformatics 20, no. 1 (2019): 269.
Hu, Y J., and D Y. Lin. "Analysis of untyped SNPs: maximum likelihood and imputation methods." Genet Epidemiol 34, no. 8 (2010): 803-15.
Lin, Jiaxing, Alexander Sibley, Ivo Shterev, Andrew Nixon, Federico Innocenti, Cliburn Chan, and Kouros Owzar. "fastJT: An R package for robust and efficient feature selection for machine learning and genome-wide association studies." BMC Bioinformatics 20, no. 1 (2019): 333.
Brucker, Amanda, Wenbin Lu, Rachel Marceau West, Qi-You Yu, Chuhsing Kate Hsiao, Tzu-Hung Hsiao, Ching-Heng Lin, Patrik K. E. Magnusson, Patrick F. Sullivan, Jin P. Szatkiewicz et al. "Association test using Copy Number Profile Curves (CONCUR) enhances power in rare copy number variant analysis." PLoS Comput Biol 16, no. 5 (2020): e1007797.
"Genome-wide association study identifies five new schizophrenia loci." Nat Genet 43, no. 10 (2011): 969-76.
X Jeng, Jessie, Jacob Rhyne, Teng Zhang, and Jung-Ying Tzeng. "Effective SNP ranking improves the performance of eQTL mapping." Genet Epidemiol 44, no. 6 (2020): 611-619.
Wojcik, Genevieve L., Mariaelisa Graff, Katherine K. Nishimura, Ran Tao, Jeffrey Haessler, Christopher R. Gignoux, Heather M. Highland, Yesha M. Patel, Elena P. Sorokin, Christy L. Avery et al. "Genetic analyses of diverse populations improves discovery for complex traits." Nature 570, no. 7762 (2019): 514-518.
Genomics
Zhang, Xiang, Shunping Huang, Fei Zou, and Wei Wang. "TEAM: efficient two-locus epistasis tests in human genome-wide association study." Bioinformatics 26, no. 12 (2010): i217-27.
Cruz-Garcia, Lourdes, Grainne O'Brien, Botond Sipos, Simon Mayes, Michael I. Love, Daniel J. Turner, and Christophe Badie. "Generation of a Transcriptional Radiation Exposure Signature in Human Blood Using Long-Read Nanopore Sequencing." Radiat Res 193, no. 2 (2020): 143-154.
He, Qianchuan, Hao Helen Zhang, Christy L. Avery, and D Y. Lin. "Sparse meta-analysis with high-dimensional data." Biostatistics 17, no. 2 (2016): 205-20.
Kimes, Patrick K., Yufeng Liu, David Neil Hayes, and James Stephen Marron. "Statistical significance for hierarchical clustering." Biometrics 73, no. 3 (2017): 811-821.
Wang, WeiBo, Wei Wang, Wei Sun, James J. Crowley, and Jin P. Szatkiewicz. "Allele-specific copy-number discovery from whole-genome and whole-exome sequencing." Nucleic Acids Res 43, no. 14 (2015): e90.
Kim, Jinseog, Insuk Sohn, Dae-Soon Son, Dong Hwan Kim, Taejin Ahn, and Sin-Ho Jung. "Prediction of a time-to-event trait using genome wide SNP data." BMC Bioinformatics 14 (2013): 58.
Love, Michael I., Charlotte Soneson, Peter F. Hickey, Lisa K. Johnson, Tessa N Pierce, Lori Shepherd, Martin Morgan, and Rob Patro. "Tximeta: Reference sequence checksums for provenance identification in RNA-seq." PLoS Comput Biol 16, no. 2 (2020): e1007664.
Jeng, Xinge Jessie, Zhongyin John Daye, Wenbin Lu, and Jung-Ying Tzeng. "Rare Variants Association Analysis in Large-Scale Sequencing Studies at the Single Locus Level." PLoS Comput Biol 12, no. 6 (2016): e1004993.
Hu, Jun, and Jung-Ying Tzeng. "Integrative gene set analysis of multi-platform data with sample heterogeneity." Bioinformatics 30, no. 11 (2014): 1501-7.
Jiang, Yuchao, Rujin Wang, Eugene Urrutia, Ioannis N. Anastopoulos, Katherine L. Nathanson, and Nancy R. Zhang. "CODEX2: full-spectrum copy number variation detection by high-throughput DNA sequencing." Genome Biol 19, no. 1 (2018): 202.
Pang, Herbert, Keita Ebisu, Emi Watanabe, Laura Y. Sue, and Tiejun Tong. "Analysing breast cancer microarrays from African Americans using shrinkage-based discriminant analysis." Hum Genomics 5, no. 1 (2010): 5-16.
Brucker, Amanda, Wenbin Lu, Rachel Marceau West, Qi-You Yu, Chuhsing Kate Hsiao, Tzu-Hung Hsiao, Ching-Heng Lin, Patrik K. E. Magnusson, Patrick F. Sullivan, Jin P. Szatkiewicz et al. "Association test using Copy Number Profile Curves (CONCUR) enhances power in rare copy number variant analysis." PLoS Comput Biol 16, no. 5 (2020): e1007797.
Lin, Dan-Yu, Donglin Zeng, and David Couper. "A general framework for integrative analysis of incomplete multiomics data." Genet Epidemiol 44, no. 7 (2020): 646-664.
McCabe, Sean D., Dan-Yu Lin, and Michael I. Love. "Consistency and overfitting of multi-omics methods on experimental data." Brief Bioinform 21, no. 4 (2020): 1277-1284.
He, Qianchuan, Christy L. Avery, and Dan-Yu Lin. "A general framework for association tests with multivariate traits in large-scale genomics studies." Genet Epidemiol 37, no. 8 (2013): 759-67.
Urrutia, Eugene, Hao Chen, Zilu Zhou, Nancy R. Zhang, and Yuchao Jiang. "Integrative pipeline for profiling DNA copy number and inferring tumor phylogeny." Bioinformatics 34, no. 12 (2018): 2126-2128.
Wang, Rujin, Dan-Yu Lin, and Yuchao Jiang. "SCOPE: A Normalization and Copy-Number Estimation Method for Single-Cell DNA Sequencing." Cell Syst 10, no. 5 (2020): 445-452.e6.
Wong, Kin Yau, Cheng Fan, Maki Tanioka, Joel S. Parker, Andrew B. Nobel, Donglin Zeng, Dan-Yu Lin, and Charles M. Perou. "I-Boost: an integrative boosting approach for predicting survival time with multiple genomics platforms." Genome Biol 20, no. 1 (2019): 52.
Genotype
Appell, Malin L., Jonathan Berg, John Duley, William E. Evans, Martin A. Kennedy, Lynne Lennard, Tony Marinaki, Howard L. McLeod, Mary V. Relling, Elke Schaeffeler et al. "Nomenclature for alleles of the thiopurine methyltransferase gene." Pharmacogenet Genomics 23, no. 4 (2013): 242-8.
Hu, Yi-Juan, Yun Li, Paul L. Auer, and Dan-Yu Lin. "Integrative analysis of sequencing and array genotype data for discovering disease associations with rare mutations." Proc Natl Acad Sci U S A 112, no. 4 (2015): 1019-24.
Hu, Yi-Juan, Sonja I. Berndt, Stefan Gustafsson, Andrea Ganna, Joel Hirschhorn, Kari E. North, Erik Ingelsson, and Dan-Yu Lin. "Meta-analysis of gene-level associations for rare variants based on single-variant statistics." Am J Hum Genet 93, no. 2 (2013): 236-48.
Lin, Dan-Yu, Donglin Zeng, and David Couper. "A general framework for integrative analysis of incomplete multiomics data." Genet Epidemiol 44, no. 7 (2020): 646-664.
Wang, Xin, Daowen Zhang, and Jung-Ying Tzeng. "Pathway-guided identification of gene-gene interactions." Ann Hum Genet 78, no. 6 (2014): 478-91.
Lin, Dan-Yu. "A simple and accurate method to determine genomewide significance for association tests in sequencing studies." Genet Epidemiol 43, no. 4 (2019): 365-372.
Knickmeyer, Rebecca C., Jiaping Wang, Hongtu Zhu, Xiujuan Geng, Sandra Woolson, Robert M. Hamer, Thomas Konneker, Weili Lin, Martin Styner, and John H. Gilmore. "Common variants in psychiatric risk genes predict brain structure at birth." Cereb Cortex 24, no. 5 (2014): 1230-46.
Pietryk, Edward W., Kiristin Clement, Marwa Elnagheeb, Ryan Kuster, Kayla Kilpatrick, Michael I. Love, and Folami Y. Ideraabdullah. "Intergenerational response to the endocrine disruptor vinclozolin is influenced by maternal genotype and crossing scheme." Reprod Toxicol 78 (2018): 9-19.
Pang, Herbert, Michael Hauser, and Stéphane Minvielle. "Pathway-based identification of SNPs predictive of survival." Eur J Hum Genet 19, no. 6 (2011): 704-9.
Wang, Xin, Michael P. Epstein, and Jung-Ying Tzeng. "Analysis of gene-gene interactions using gene-trait similarity regression." Hum Hered 78, no. 1 (2014): 17-26.

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