Publications | PubMed=17122850; DOI=10.1038/nature05329 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 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 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 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 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) PubMed=31401124; DOI=10.1016/j.jmoldx.2019.06.007 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) |