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  • Showing 1-7 of 7 Results
2016
Analysis of protein-coding genetic variation in 60,706 humans.Lek, M., Karczewski KJ, Minikel EV, Samocha KE, Banks E., Fennell T., O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T., Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K., Zhao F., Zou J., Pierce-Hoffman E., Berghout J., Cooper DN, et al. Nature, 2016/08/17, Volume 536, Issue 7616, p.285-91, (2016) Read More / View Supplemental Materials
Abstract
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.Ruderfer, DM, Hamamsy T., Lek M., Karczewski KJ, Kavanagh D., Samocha KE, Exome Aggregation Consortium, Daly M. J., Macarthur DG, Fromer M., and Purcell SM Nature genetics, 2016/08/17, (2016) Read More / View Supplemental Materials
Abstract
Health and population effects of rare gene knockouts in adult humans with related parents.Narasimhan, VM, Hunt KA, Mason D., Baker CL, Karczewski KJ, Barnes MR, Barnett AH, Bates C., Bellary S., Bockett NA, Giorda K., Griffiths CJ, Hemingway H., Jia Z., Kelly MA, Khawaja HA, Lek M., McCarthy S., McEachan R., O'Donnell-Luria A., et al. Science (New York, N.Y.), 2016/03/03, (2016) Read More / View Supplemental Materials
Abstract
Quantifying prion disease penetrance using large population control cohorts.Minikel, EV, Vallabh SM, Lek M., Estrada K., Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P., Blevins J., Zhang S., Cohen Y., Chen W., Yamada M., Hamaguchi T., Sanjo N., Mizusawa H., Nakamura Y., Kitamoto T., et al. Science translational medicine, 2016/01/20, Volume 8, Issue 322, p.322ra9, (2016) Read More / View Supplemental Materials
Abstract
2015
Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies.Li, YR, van Setten J., Verma SS, Lu Y., Holmes MV, Gao H., Lek M., Nair N., Chandrupatla H., Chang B., Karczewski KJ, Wong C., Mohebnasab M., Mukhtar E., Phillips R., Tragante V., Hou C., Steel L., Lee T., Garifallou J., et al. Genome medicine, 2015/10/01, Volume 7, Issue 1, p.90, (2015) Read More / View Supplemental Materials
Abstract
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
2014
Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci.Tragante, V., Barnes MR, Ganesh SK, Lanktree MB, Guo W., Franceschini N., Smith EN, Johnson T., Holmes MV, Padmanabhan S., Karczewski KJ, Almoguera B., Barnard J., Baumert J., Chang YP, Elbers CC, Farrall M., Fischer ME, Gaunt TR, Gho JM, et al. American journal of human genetics, 2014/02/19, (2014) Read More / View Supplemental Materials
Abstract
  • Showing 1-7 of 7 Results