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=24037378; DOI=10.1038/nature12531; PMCID=PMC3918453
Tuuli Lappalainen, Michael Sammeth, Marc R. Friedlander, Peter A.C. 't Hoen, Jean Monlong, Manuel A. Rivas, Mar Gonzalez-Porta, Natalja Kurbatova, Thasso Griebel, Pedro G. Ferreira, Matthias Barann ...Show all 57 authors... , Thomas Wieland, Liliana Greger, Maarten van Iterson, Jonas Carlsson Almlof, Paolo Ribeca, Irina Pulyakhina, Daniela Esser, Thomas Giger, Andrew Tikhonov, Marc Sultan, Gabrielle Bertier, Daniel G. MacArthur, Monkol Lek, Esther Lizano, Henk P.J. Buermans, Ismael Padioleau, Thomas Schwarzmayr, Olof Karlberg, Halit Ongen, Helena Kilpinen, Sergi Beltran, Marta Gut, Katja Kahlem, Vyacheslav Amstislavskiy, Oliver Stegle, Matti Pirinen, Stephen B. Montgomery, Peter Donnelly, Mark I. McCarthy, Paul Flicek, Tim-Matthias Strom, Hans Lehrach, Stefan Schreiber, Ralf Sudbrak, Angel Carracedo, Stylianos E. Antonarakis, Robert Hasler, Ann-Christine Syvanen, Gert-Jan B. van Ommen, Alvis Brazma, Thomas Meitinger, Philip Rosenstiel, Roderic Guigo, Ivo G. Gut, Xavier Estivill, Emmanouil Theophilos Dermitzakis; Show fewer authors
Geuvadis Consortium
Transcriptome and genome sequencing uncovers functional variation in humans.
Nature 501:506-511(2013)

PubMed=27617755; DOI=10.1038/srep32406; PMCID=PMC5019111
Pedro G. Ferreira, Martin Oti, Matthias Barann, Thomas Wieland, Suzana Ezquina, Marc R. Friedlander, Manuel A. Rivas, Anna Esteve-Codina, Philip Rosenstiel, Tim-Matthias Strom, Tuuli Lappalainen ...Show all 13 authors... , Roderic Guigo, Michael Sammeth; Show fewer authors
Geuvadis Consortium
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing.
Sci. Rep. 6:32406-32406(2016)