PubMed=20220758; DOI=10.1038/nature08872
Pickrell J.K., Marioni J.C., Pai A.A., Degner J.F., Engelhardt B.E., Nkadori E., Veyrieras J.-B., Stephens M., Gilad Y., Pritchard J.K.
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
Campbell C.D., Sampas N., Tsalenko A., Sudmant P.H., Kidd J.M., Malig M., Vu T.H., Vives L., Tsang P., Bruhn L., Eichler E.E.
Population-genetic properties of differentiated human copy-number polymorphisms.
Am. J. Hum. Genet. 88:317-332(2011)

PubMed=23676674; DOI=10.1038/nature12223
Wu L.-F., Candille S.I., Choi Y., Xie D., Jiang L.-H., Li-Pook-Than J., Tang H., Snyder M.P.
Variation and genetic control of protein abundance in humans.
Nature 499:79-82(2013)

PubMed=24037378; DOI=10.1038/nature12531
Lappalainen T., Sammeth M., Friedlander M.R., 't Hoen P.A.C., Monlong J., Rivas M.A., Gonzalez-Porta M., Kurbatova N., Griebel T., Ferreira P.G., Barann M., Wieland T., Greger L., van Iterson M., Almlof J.C., Ribeca P., Pulyakhina I., Esser D., Giger T., Tikhonov A., Sultan M., Bertier G., MacArthur D.G., Lek M., Lizano E., Buermans H.P.J., Padioleau I., Schwarzmayr T., Karlberg O., Ongen H., Kilpinen H., Beltran S., Gut M., Kahlem K., Amstislavskiy V., Stegle O., Pirinen M., Montgomery S.B., Donnelly P., McCarthy M.I., Flicek P., Strom T.-M., Lehrach H., Schreiber S., Sudbrak R., Carracedo A., Antonarakis S.E., Hasler R., Syvanen A.-C., van Ommen G.-J.B., Brazma A., Meitinger T., Rosenstiel P., Guigo R., Gut I.G., Estivill X., Dermitzakis E.T.
Transcriptome and genome sequencing uncovers functional variation in humans.
Nature 501:506-511(2013)

PubMed=26621101; DOI=10.1016/j.jmoldx.2015.08.005
Pratt V.M., Everts R.E., Aggarwal P., Beyer B.N., Broeckel U., Epstein-Baak R., Hujsak P., Kornreich R., Liao J., Lorier R., Scott S.A., Smith C.-Y.H., Toji L.H., Turner A., Kalman L.V.
Characterization of 137 genomic DNA reference materials for 28 pharmacogenetic genes: a GeT-RM collaborative project.
J. Mol. Diagn. 18:109-123(2016)

PubMed=27617755; DOI=10.1038/srep32406
Ferreira P.G., Oti M., Barann M., Wieland T., Ezquina S., Friedlander M.R., Rivas M.A., Esteve-Codina A., Rosenstiel P., Strom T.-M., Lappalainen T., Guigo R., Sammeth M.
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing.
Sci. Rep. 6:32406-32406(2016)