| Publications | PubMed=17122850; DOI=10.1038/nature05329; PMCID=PMC2669898 Richard Redon, Shumpei Ishikawa, Karen R. Fitch, Lars Feuk, George H. Perry, T. Daniel Andrews, Heike Fiegler, Michael H. Shapero, Andrew R. Carson, Wen-Wei Chen, Eun Kyung Cho ...Show all 43 authors... , Stephanie Dallaire, Jennifer L. Freeman, Juan R. Gonzalez, Monica Gratacos, Jing Huang, Dimitrios Kalaitzopoulos, Daisuke Komura, Jeffrey R. MacDonald, Christian R. Marshall, Rui Mei, Lyndal Montgomery, Kunihiro Nishimura, Kohji Okamura, Fan Shen, Martin John Somerville, Joelle Tchinda, Armand Valsesia, Cara Woodwark, Feng-Tang Yang, Jun-Jun Zhang, Tatiana Zerjal, Jane Zhang, Lluis Armengol, Donald F. Conrad, Xavier Estivill, Chris Tyler-Smith, Nigel P. Carter, Hiroyuki Aburatani, Charles Lee, Keith W. Jones, Stephen Wayne Scherer, Matthew Edward Hurles; Show fewer authors Global variation in copy number in the human genome. Nature 444:444-454(2006) PubMed=19043577; DOI=10.1371/journal.pgen.1000287; PMCID=PMC2583954 Edwin Choy, Roman Yelensky, Sasha Bonakdar, Robert M. Plenge, Richa Saxena, Philip Lawrence De Jager, Stanley Y. Shaw, Cara Susan Wolfish, Jacqueline M. Slavik, Chris Cotsapas, Manuel A. Rivas ...Show all 17 authors... , Emmanouil Theophilos Dermitzakis, Ellen Cahir-McFarland, Elliott Dan Kieff, David A. Hafler, Mark Joseph Daly, David Matthew Altshuler; Show fewer authors Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines. PLoS Genet. 4:e1000287.1-e1000287.16(2008) PubMed=19797678; DOI=10.1101/gr.097600.109; PMCID=PMC2775589 Renuka R. Nayak, Michael Justin Kearns, Richard Saul Spielman, Vivian G. Cheung; Coexpression network based on natural variation in human gene expression reveals gene interactions and functions. Genome Res. 19:1953-1962(2009) PubMed=20220758; DOI=10.1038/nature08872; PMCID=PMC3089435 Joseph K. Pickrell, John Carlo Marioni, Athma A. Pai, Jacob F. Degner, Barbara Elizabeth Engelhardt, Everlyne Nkadori, Jean-Baptiste Veyrieras, Matthew Stephens, Yoav Gilad, Jonathan Karl Pritchard; Understanding mechanisms underlying human gene expression variation with RNA sequencing. Nature 464:768-772(2010) PubMed=21397061; DOI=10.1016/j.ajhg.2011.02.004; PMCID=PMC3059424 Catarina D. Campbell, Nick Sampas, Anya Tsalenko, Peter H. Sudmant, Jeffrey M. Kidd, Maika Malig, Tiffany H. Vu, Laura Vives, Peter Tsang, Laurakay Bruhn, Evan E. Eichler; Population-genetic properties of differentiated human copy-number polymorphisms. Am. J. Hum. Genet. 88:317-332(2011) PubMed=21418647; DOI=10.1186/gb-2011-12-3-r25; PMCID=PMC3129675 Lisanne Morcos, Bing Ge, Vonda Koka, Kevin C.L. Lam, Dmitry K. Pokholok, Kevin L. Gunderson, Alexandre Montpetit, Dominique J. Verlaan, Tomi Pastinen; Genome-wide assessment of imprinted expression in human cells. Genome Biol. 12:R25.1-R25.14(2011) PubMed=22797897; DOI=10.1073/pnas.1205199109; PMCID=PMC3411951 Rebecca C. Iskow, Omer Gokcumen, Alexej Abyzov, Joanna Malukiewicz, Qi-Hui Zhu, Ann Tabitha Sukumar, Athma A. Pai, Ryan E. Mills, Lukas Habegger, Darren A. Cusanovich, Meagan A. Rubel ...Show all 16 authors... , George H. Perry, Mark Bender Gerstein, Anne C. Stone, Yoav Gilad, Charles Lee; Show fewer authors Regulatory element copy number differences shape primate expression profiles. Proc. Natl. Acad. Sci. U.S.A. 109:12656-12661(2012) PubMed=23325432; DOI=10.1101/gr.147942.112; PMCID=PMC3589544 Katherine E. Varley, Jason Gertz, Kevin M. Bowling, Stephanie L. Parker, Timothy E. Reddy, Florencia Pauli-Behn, Marie K. Cross, Brian A. Williams, John A. Stamatoyannopoulos, Gregory E. Crawford, Devin Michael Absher ...Show all 13 authors... , Barbara Jane Wold, Richard M. Myers; Show fewer authors Dynamic DNA methylation across diverse human cell lines and tissues. Genome Res. 23:555-567(2013) PubMed=23676674; DOI=10.1038/nature12223; PMCID=PMC3789121 Lin-Feng Wu, Sophie I. Candille, Yoonha Choi, Dan Xie, Li-Hua Jiang, Jennifer Li-Pook-Than, Hua Tang, Michael P. Snyder; Variation and genetic control of protein abundance in humans. Nature 499:79-82(2013) PubMed=24136359; DOI=10.1126/science.1242429; PMCID=PMC3947669 Graham McVicker, Bryce van de Geijn, Jacob F. Degner, Carolyn E. Cain, Nicholas E. Banovich, Anil Raj, Noah Lewellen, Marsha Myrthil, Yoav Gilad, Jonathan Karl Pritchard; Identification of genetic variants that affect histone modifications in human cells. Science 342:747-749(2013) PubMed=25468404; DOI=10.1186/s13059-014-0547-3; PMCID=PMC4290387 Xiang Zhou, Carolyn E. Cain, Marsha Myrthil, Noah Lewellen, Katelyn Michelini, Emily R. Davenport, Matthew Stephens, Jonathan Karl Pritchard, Yoav Gilad; Epigenetic modifications are associated with inter-species gene expression variation in primates. Genome Biol. 15:547.1-547.19(2014) PubMed=26621101; DOI=10.1016/j.jmoldx.2015.08.005; PMCID=PMC4695224 Victoria M. Pratt, Robin E. Everts, Praful Aggarwal, Brittany N. Beyer, Ulrich Broeckel, Ruth Epstein-Baak, Paul Hujsak, Ruth Kornreich, Jun Liao, Rachel Lorier, Stuart A. Scott ...Show all 15 authors... , Ching-Ying Huang Smith, Lorraine Hellenga Toji, Amy Turner, Lisa V. Kalman; Show fewer authors Characterization of 137 genomic DNA reference materials for 28 pharmacogenetic genes: a GeT-RM collaborative project. J. Mol. Diagn. 18:109-123(2016) PubMed=27792722; DOI=10.1371/journal.pcbi.1005151; PMCID=PMC5085092 Alexander T. Dilthey, Pierre-Antoine Gourraud, Alexander J. Mentzer, Nezih Cereb, Zamin Iqbal, Gilean Alistair Tristram McVean; High-accuracy HLA type inference from whole-genome sequencing data using population reference graphs. PLoS Comput. Biol. 12:e1005151.1-e1005151.16(2016) PubMed=29474986; DOI=10.1016/j.jmoldx.2018.01.011 Victoria M. Pratt, Andria L. Del Tredici, Houda Hachad, Yuan Ji, Lisa V. Kalman, Stuart A. Scott, Karen E. Weck; Recommendations for clinical CYP2C19 genotyping allele selection: a report of the Association for Molecular Pathology. J. Mol. Diagn. 20:269-276(2018) |