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=20220758; DOI=10.1038/nature08872; PMCID=PMC3089435 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; 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=22797897; DOI=10.1073/pnas.1205199109; PMCID=PMC3411951 Iskow R.C., Gokcumen O., Abyzov A., Malukiewicz J., Zhu Q.-H., Sukumar A.T., Pai A.A., Mills R.E., Habegger L., Cusanovich D.A., Rubel M.A., Perry G.H., Gerstein M.B., Stone A.C., Gilad Y., Lee C. Regulatory element copy number differences shape primate expression profiles. Proc. Natl. Acad. Sci. U.S.A. 109:12656-12661(2012) PubMed=23676674; DOI=10.1038/nature12223; PMCID=PMC3789121 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; 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=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=31273215; DOI=10.1038/s41597-019-0116-4; PMCID=PMC6609777 Osorio D., Yu X., Yu P., Serpedin E., Cai J.J. Single-cell RNA sequencing of a European and an African lymphoblastoid cell line. Sci. Data 6:112-112(2019) |