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  • Showing 1-5 of 5 Results
2015
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.Rivas, MA, Pirinen M., Conrad DF, Lek M., Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, Deluca DS, Fromer M., Ferreira PG, Smith KS, Zhang R., Zhao F., Banks E., Poplin R., Ruderfer DM, Purcell SM, Tukiainen T., Minikel EV, et al. Science (New York, N.Y.), 2015/05/08, Volume 348, Issue 6235, p.666-9, (2015) Read More / View Supplemental Materials
Abstract
Human genomics. The human transcriptome across tissues and individuals.Melé, M., Ferreira PG, Reverter F., Deluca DS, Monlong J., Sammeth M., Young TR, Goldmann JM, Pervouchine DD, Sullivan TJ, Johnson R., Segrè AV, Djebali S., Niarchou A., GTEx Consortium, Wright FA, Lappalainen T., Calvo M., Getz G., Dermitzakis ET, et al. Science (New York, N.Y.), 2015/05/08, Volume 348, Issue 6235, p.660-5, (2015) Read More / View Supplemental Materials
Abstract
2014
Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population.Lim, ET, Würtz P., Havulinna AS, Palta P., Tukiainen T., Rehnström K., Esko T., Mägi R., Inouye M., Lappalainen T., Chan Y., Salem RM, Lek M., Flannick J., Sim X., Manning A., Ladenvall C., Bumpstead S., Hämäläinen E., Aalto K., et al. PLoS genetics, 2014/07/01, Volume 10, Issue 7, p.e1004494, (2014) Read More / View Supplemental Materials
Abstract
High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms.Kurki, MI, Gaál EI, Kettunen J., Lappalainen T., Menelaou A., Anttila V., van 't Hof FN, von Und Zu Fraunberg M., Helisalmi S., Hiltunen M., Lehto H., Laakso A., Kivisaari R., Koivisto T., Ronkainen A., Rinne J., Kiemeney LA, Vermeulen SH, Kaunisto MA, Eriksson JG, et al. PLoS genetics, 2014/01/01, Volume 10, Issue 1, p.e1004134, (2014) Read More / View Supplemental Materials
Abstract
2013
The Genotype-Tissue Expression (GTEx) project.Lonsdale, J., Thomas J., Salvatore M., Phillips R., Lo E., Shad S., Hasz R., Walters G., Garcia F., Young N., Foster B., Moser M., Karasik E., Gillard B., Ramsey K., Sullivan S., Bridge J., Magazine H., Syron J., Fleming J., et al. Nature genetics, 2013/05/29, Volume 45, Issue 6, p.580-5, (2013) Read More / View Supplemental Materials
  • Showing 1-5 of 5 Results