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=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=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=29474986; DOI=10.1016/j.jmoldx.2018.01.011 Pratt V.M., Del Tredici A.L., Hachad H., Ji Y., Kalman L.V., Scott S.A., Weck K.E. Recommendations for clinical CYP2C19 genotyping allele selection: a report of the Association for Molecular Pathology. J. Mol. Diagn. 20:269-276(2018) 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) |