Publications

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2020
Li, X. et al. Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale. Nat Genet 52, 969-983 (2020).
Li, X. et al. Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale. Nat Genet 52, 969-983 (2020).
Li, X. et al. Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale. Nat Genet 52, 969-983 (2020).
Zhong, X. et al. Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis. Genet Med 22, 1191-1200 (2020).
Qian, J. et al. A fast and scalable framework for large-scale and ultrahigh-dimensional sparse regression with application to the UK Biobank. PLoS Genet 16, e1009141 (2020).
Li, R. et al. Fast Lasso method for large-scale and ultrahigh-dimensional Cox model with applications to UK Biobank. Biostatistics (2020). doi:10.1093/biostatistics/kxaa038
Venkataraman, G. Ram et al. FasTag: Automatic text classification of unstructured medical narratives. PLoS One 15, e0234647 (2020).
Rochtus, A. et al. Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Epilepsia 61, 249-258 (2020).
Rochtus, A. et al. Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Epilepsia 61, 249-258 (2020).
Montgomery, M. T. et al. Genome-Wide Analysis Reveals Mucociliary Remodeling of the Nasal Airway Epithelium Induced by Urban PM. Am J Respir Cell Mol Biol 63, 172-184 (2020).
Montgomery, M. T. et al. Genome-Wide Analysis Reveals Mucociliary Remodeling of the Nasal Airway Epithelium Induced by Urban PM. Am J Respir Cell Mol Biol 63, 172-184 (2020).
Dietlein, F. et al. Identification of cancer driver genes based on nucleotide context. Nat Genet 52, 208-218 (2020).
Dietlein, F. et al. Identification of cancer driver genes based on nucleotide context. Nat Genet 52, 208-218 (2020).
Gay, N. R. et al. Impact of admixture and ancestry on eQTL analysis and GWAS colocalization in GTEx. Genome Biol 21, 233 (2020).
Amariuta, T. et al. Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements. Nat Genet 52, 1346-1354 (2020).
C Y Mak, A. et al. Lung Function in African American Children with Asthma Is Associated with Novel Regulatory Variants of the KIT Ligand and Gene-By-Air-Pollution Interaction. Genetics 215, 869-886 (2020).
Rau, C. D. et al. Modeling epistasis in mice and yeast using the proportion of two or more distinct genetic backgrounds: Evidence for "polygenic epistasis". PLoS Genet 16, e1009165 (2020).
Baldassari, A. R. et al. Multi-Ethnic Genome-Wide Association Study of Decomposed Cardioelectric Phenotypes Illustrates Strategies to Identify and Characterize Evidence of Shared Genetic Effects for Complex Traits. Circ Genom Precis Med 13, e002680 (2020).
Baldassari, A. R. et al. Multi-Ethnic Genome-Wide Association Study of Decomposed Cardioelectric Phenotypes Illustrates Strategies to Identify and Characterize Evidence of Shared Genetic Effects for Complex Traits. Circ Genom Precis Med 13, e002680 (2020).
McCaw, Z. R., Lane, J. M., Saxena, R., Redline, S. & Lin, X. Operating characteristics of the rank-based inverse normal transformation for quantitative trait analysis in genome-wide association studies. Biometrics 76, 1262-1272 (2020).
Unlu, G. et al. Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies. Nat Med 26, 98-109 (2020).
Tcheandjieu, C. et al. A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population. PLoS Genet 16, e1008802 (2020).
Asgari, S. et al. A positively selected FBN1 missense variant reduces height in Peruvian individuals. Nature 582, 234-239 (2020).
Patel, A. P., Paranjpe, M. D., Kathiresan, N. P., Rivas, M. A. & Khera, A. V. Race, socioeconomic deprivation, and hospitalization for COVID-19 in English participants of a national biobank. Int J Equity Health 19, 114 (2020).
Tanigawa, Y. et al. Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma. PLoS Genet 16, e1008682 (2020).
Ferraro, N. M. et al. Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
Sajuthi, S. P. et al. Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium. Nat Commun 11, 5139 (2020).
Sajuthi, S. P. et al. Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium. Nat Commun 11, 5139 (2020).
Sajuthi, S. P. et al. Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium. Nat Commun 11, 5139 (2020).
Sajuthi, S. P. et al. Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium. bioRxiv (2020). doi:10.1101/2020.04.09.034454
Sajuthi, S. P. et al. Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium. bioRxiv (2020). doi:10.1101/2020.04.09.034454
Sajuthi, S. P. et al. Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium. bioRxiv (2020). doi:10.1101/2020.04.09.034454
Werling, D. M. et al. Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex. Cell Rep 31, 107489 (2020).
2021
Wang, X. et al. Association between Smoking History and Tumor Mutation Burden in Advanced Non-Small Cell Lung Cancer. Cancer Res 81, 2566-2573 (2021).
Wang, X. et al. Association between Smoking History and Tumor Mutation Burden in Advanced Non-Small Cell Lung Cancer. Cancer Res 81, 2566-2573 (2021).
Sakaue, S. et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nat Genet 53, 1415-1424 (2021).
Herrera-Luis, E. et al. A deoxyribonuclease 1-like 3 genetic variant associates with asthma exacerbations. J Allergy Clin Immunol 147, 1095-1097.e10 (2021).
Sinnott-Armstrong, N. et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nat Genet 53, 185-194 (2021).
Sinnott-Armstrong, N. et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nat Genet 53, 185-194 (2021).
Sinnott-Armstrong, N. et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nat Genet 53, 185-194 (2021).
Herrera-Luis, E. et al. Genome-wide association study reveals a novel locus for asthma with severe exacerbations in diverse populations. Pediatr Allergy Immunol 32, 106-115 (2021).
Amar, D., Sinnott-Armstrong, N., Ashley, E. A. & Rivas, M. A. Graphical analysis for phenome-wide causal discovery in genotyped population-scale biobanks. Nat Commun 12, 350 (2021).
Sinnott-Armstrong, N., Naqvi, S., Rivas, M. & Pritchard, J. K. GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background. Elife 10, (2021).
Sun, R. et al. Integration of multiomic annotation data to prioritize and characterize inflammation and immune-related risk variants in squamous cell lung cancer. Genet Epidemiol 45, 99-114 (2021).
Sun, R. et al. Integration of multiomic annotation data to prioritize and characterize inflammation and immune-related risk variants in squamous cell lung cancer. Genet Epidemiol 45, 99-114 (2021).
Goddard, P. C. et al. Integrative genomic analysis in African American children with asthma finds three novel loci associated with lung function. Genet Epidemiol 45, 190-208 (2021).
Contreras, M. G. et al. Native American Ancestry and Air Pollution Interact to Impact Bronchodilator Response in Puerto Rican Children with Asthma. Ethn Dis 31, 77-88 (2021).
Aguirre, M. et al. Polygenic risk modeling with latent trait-related genetic components. Eur J Hum Genet (2021). doi:10.1038/s41431-021-00813-0
Seplyarskiy, V. B. et al. Population sequencing data reveal a compendium of mutational processes in the human germ line. Science 373, 1030-1035 (2021).
Seplyarskiy, V. B. et al. Population sequencing data reveal a compendium of mutational processes in the human germ line. Science 373, 1030-1035 (2021).

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