Publications

42 Results (Filters Applied)
  • Lappalainen Lab x
Nature. 2022 Aug. 3.

Transcriptome variation in human tissues revealed by long-read sequencing.

Dafni A. Glinos, Garrett Garborcauskas, Paul Hoffman, Nava Ehsan, Lihua Jiang, Alper Gokden, Xiaoguang Dai, François Aguet, Kathleen L. Brown, Kiran Garimella, Tera Bowers, Maura Costello, Kristin Ardlie, Ruiqi Jian, Nathan R. Tucker, Patrick T. Ellinor, Eoghan D. Harrington, Hua Tang, Michael Snyder, Sissel Juul, Pejman Mohammadi, Daniel G. MacArthur, Tuuli Lappalainen & Beryl B. Cummings

Nature Reviews Methods Primers. 2021 Aug. 26.

Genome-wide association studies.

Emil Uffelmann, Qin Qin Huang, Nchangwi Syntia Munung, Jantina de Vries, Yukinori Okada, Alicia R. Martin, Hilary C. Martin, Tuuli Lappalainen & Danielle Posthuma

Hum Mol Genet. 2021 Aug. 20.

Epigenome-wide association study of mitochondrial genome copy number.

Wang P, Castellani CA, Yao J, Huan T, Bielak LF, Zhao W, Haessler J, Roby J, Sun X, Guo X, Longchamps RJ, Manson JE, Grove ML, Bressler J, Taylor KD, Lappalainen T, Kasela S, Van Den Berg DJ, Hou L, Reiner A, Liu Y, Boerwinkle E, Smith JA, Peyser PA, Fornage M, Rich SS, Rotter JI, Kooperberg C, Arking DE, Levy D, Liu C; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium..
Genome Medicine. 2021 Apr. 21.

Genetic and non-genetic factors affecting the expression of COVID-19 relevant genes in the large airway epithelium.

Silva Kasela, Victor E Ortega, Molly Martorella, Suresh Garudadri, Jenna Nguyen, Elizabeth Ampleford, Anu Pasanen, Srilaxmi Nerella, Kristina L Buschur, Igor Z Barjaktarevic, R Graham Barr, Eugene R Bleecker, Russell P Bowler, Alejandro P Comellas, Christopher B Cooper, David J Couper, Gerard J Criner, Jeffrey L Curtis, MeiLan K Han, Nadia N Hansel, Eric A Hoffman, Robert J Kaner, Jerry A Krishnan, Fernando J Martinez, Merry-Lynn N McDonald, Deborah A Meyers, Robert Paine III, Stephen P Peters, Mario Castro, Loren C Denlinger, Serpil C Erzurum, John V Fahy, Elliot Israel, Nizar N Jarjour, Bruce D Levy, Xingnan Li, Wendy C Moore, Sally E Wenzel, Joe Zein, NHLBI SubPopulations and InteRmediate Outcome Measures In COPD Study (SPIROMICS), NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Charles Langelier, Prescott G Woodruff, Tuuli Lappalainen, Stephanie A Christenson

Genome Biology. 2021 Jan. 26.

Exploiting the GTEx resources to decipher the mechanisms at GWAS loci.

Alvaro N Barbeira, Rodrigo Bonazzola, Eric R Gamazon, Yanyu Liang, YoSon Park, Sarah Kim-Hellmuth, Gao Wang, Zhuoxun Jiang, Dan Zhou, Farhad Hormozdiari, Boxiang Liu, Abhiram Rao, Andrew R Hamel, Milton D Pividori, François Aguet, GTEx GWAS Working Group, Lisa Bastarache, Daniel M Jordan, Marie Verbanck, Ron Do, GTEx Consortium, Matthew Stephens, Kristin Ardlie, Mark McCarthy, Stephen B Montgomery, Ayellet V Segrè, Christopher D. Brown, Tuuli Lappalainen, Xiaoquan Wen, Hae Kyung Im.

Nature Communications. 2020 Oct. 14.

Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants.

Zhao X, Qiao D, Yang C, Kasela S, Kim W, Ma Y, Shrine N, Batini C, Sofer T, Taliun SAG, Sakornsakolpat P, Balte PP, Prokopenko D, Yu B, Lange LA, Dupuis J, Cade BE, Lee J, Gharib SA, Daya M, Laurie CA, Ruczinski I, Cupples LA, Loehr LR, Bartz TM, Morrison AC, Psaty BM, Vasan RS, Wilson JG, Taylor KD, Durda P, Johnson WC, Cornell E, Guo X, Liu Y, Tracy RP, Ardlie KG, Aguet F, VanDenBerg DJ, Papanicolaou GJ, Rotter JI, Barnes KC, Jain D, Nickerson DA, Muzny DM, Metcalf GA, Doddapaneni H, Dugan-Perez S, Gupta N, Gabriel S, Rich SS, O’Connor GT, Redline S, Reed RM, Laurie CC, Daviglus ML, Preudhomme LK, Burkart KM, Kaplan RC, Wain LV, Tobin MD, London SJ, Lappalainen T, Oelsner EC, Abecasis GR, Silverman EK, Barr RG; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lung Working Group, Cho MH, Manichaikul A.

Science. 2020 Sept. 11.

Cell type–specific genetic regulation of gene expression across human tissues.

Sarah Kim-Hellmuth, François Aguet, Meritxell Oliva, Manuel Muñoz-Aguirre, Silva Kasela, Valentin Wucher, Stephane E. Castel, Andrew R. Hamel, Ana Viñuela, Amy L. Roberts, Serghei Mangul, Xiaoquan Wen, Gao Wang, Alvaro N. Barbeira, Diego Garrido-Martín, Brian B. Nadel, Yuxin Zou, Rodrigo Bonazzola, Jie Quan, Andrew Brown, Angel Martinez-Perez, José Manuel Soria, GTEx Consortium, Gad Getz, Emmanouil T. Dermitzakis, Kerrin S. Small, Matthew Stephens, Hualin S. Xi, Hae Kyung Im, Roderic Guigó, Ayellet V. Segrè, Barbara E. Stranger, Kristin G. Ardlie, Tuuli Lappalainen

Science. 2020 Sept. 11.

Transcriptomic signatures across human tissues identify functional rare genetic variation.

Nicole M. Ferraro, Benjamin J. Strober, Jonah Einson, Xin Li, Francois Aguet, Alvaro N. Barbeira, Stephane E. Castel, Joe R. Davis, Austin T. Hilliard, Bence Kotis, YoSon Park, Alexandra J. Scott, Craig Smail, Emily K. Tsang, Kristin G. Ardlie, Themistocles L. Assimes, Ira Hall, Hae Kyung Im, GTEx Consortium, Tuuli Lappalainen, Pejman Mohammadi, Stephen B. Montgomery, Alexis Battle
Genome Biology. 2020 Sept. 11.

Impact of admixture and ancestry on eQTL analysis and GWAS colocalization in GTEx.

Nicole R Gay, Michael Gloudemans, Margaret L. L. Antonio, Brunilda Balliu, YoSon Park, Alicia R. Martin, Shaila Musharoff, Abhiram Rao, François Aguet, Alvaro Barbeira, Rodrigo Bonazzola, Farhad Hormozdiari, GTEx Consortium, Kristin G. Ardlie, Christopher D. Brown, Hae Kyung Im, Tuuli Lappalainen, Xiaoquan Wen, Stephen B. Montgomery

This work was partially supported by a gift from the Simons Foundation.