Publications | PubMed=17122850; DOI=10.1038/nature05329; PMCID=PMC2669898 Redon R., Ishikawa S., Fitch K.R., Feuk L., Perry G.H., Andrews T.D., Fiegler H., Shapero M.H., Carson A.R., Chen W.-W., Cho E.K., Dallaire S., Freeman J.L., Gonzalez J.R., Gratacos M., Huang J., Kalaitzopoulos D., Komura D., MacDonald J.R., Marshall C.R., Mei R., Montgomery L., Nishimura K., Okamura K., Shen F., Somerville M.J., Tchinda J., Valsesia A., Woodwark C., Yang F.-T., Zhang J.-J., Zerjal T., Zhang J., Armengol L., Conrad D.F., Estivill X., Tyler-Smith C., Carter N.P., Aburatani H., Lee C., Jones K.W., Scherer S.W., Hurles M.E. Global variation in copy number in the human genome. Nature 444:444-454(2006) PubMed=19043577; DOI=10.1371/journal.pgen.1000287; PMCID=PMC2583954 Choy E., Yelensky R., Bonakdar S., Plenge R.M., Saxena R., De Jager P.L., Shaw S.Y., Wolfish C.S., Slavik J.M., Cotsapas C., Rivas M.A., Dermitzakis E.T., Cahir-McFarland E., Kieff E.D., Hafler D.A., Daly M.J., Altshuler D.M. Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines. PLoS Genet. 4:E1000287-E1000287(2008) PubMed=19797678; DOI=10.1101/gr.097600.109; PMCID=PMC2775589 Nayak R.R., Kearns M., Spielman R.S., Cheung V.G. Coexpression network based on natural variation in human gene expression reveals gene interactions and functions. Genome Res. 19:1953-1962(2009) PubMed=21397061; DOI=10.1016/j.ajhg.2011.02.004; PMCID=PMC3059424 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=24037378; DOI=10.1038/nature12531; PMCID=PMC3918453 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.Geuvadis Consortium Transcriptome and genome sequencing uncovers functional variation in humans. Nature 501:506-511(2013) PubMed=26621101; DOI=10.1016/j.jmoldx.2015.08.005; PMCID=PMC4695224 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; PMCID=PMC5019111 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.Geuvadis Consortium Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing. Sci. Rep. 6:32406-32406(2016) PubMed=31401124; DOI=10.1016/j.jmoldx.2019.06.007; PMCID=PMC6854474 Gaedigk A., Turner A., Everts R.E., Scott S.A., Aggarwal P., Broeckel U., McMillin G.A., Melis R., Boone E.C., Pratt V.M., Kalman L.V. Characterization of reference materials for genetic testing of CYP2D6 alleles: a GeT-RM collaborative project. J. Mol. Diagn. 21:1034-1052(2019) |