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  • Showing 1-6 of 6 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
The genetic architecture of type 2 diabetes.Fuchsberger, C., Flannick J., Teslovich TM, Mahajan A., Agarwala V., Gaulton KJ, Ma C., Fontanillas P., Moutsianas L., McCarthy DJ, Rivas MA, Perry JR, Sim X., Blackwell TW, Robertson NR, Rayner NW, Cingolani P., Locke AE, Tajes JF, Highland HM, et al. Nature, 2016/07/11, (2016) Read More / View Supplemental Materials
Abstract
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
2013
From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.Van der Auwera, GA, Carneiro MO, Hartl C., Poplin R., del Angel G., Levy-Moonshine A., Jordan T., Shakir K., Roazen D., Thibault J., Banks E., Garimella KV, Altshuler D., Gabriel S., and DePristo MA Current protocols in bioinformatics / editoral board, Andreas D. Baxevanis ... [et al.], 2013/10/15, Volume 11, Issue 1110, p.11.10.1-11.10.33, (2013) Read More / View Supplemental Materials
Abstract
2012
Patterns and rates of exonic de novo mutations in autism spectrum disorders.Neale, BM, Kou Y., Liu L., Ma'ayan A., Samocha KE, Sabo A., Lin CF, Stevens C., Wang LS, Makarov V., Polak P., Yoon S., Maguire J., Crawford EL, Campbell NG, Geller ET, Valladares O., Schafer C., Liu H., Zhao T., et al. Nature, 2012/04/04, (2012) Read More / View Supplemental Materials
Abstract
2011
A framework for variation discovery and genotyping using next-generation DNA sequencing data.DePristo, MA, Banks E., Poplin R., Garimella KV, Maguire JR, Hartl C., Philippakis AA, del Angel G., Rivas MA, Hanna M., McKenna A., Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K., Gabriel SB, Altshuler D., and Daly M. J. Nature genetics, 2011/05/01, Volume 43, Issue 5, p.491-8, (2011) Read More / View Supplemental Materials
Abstract
  • Showing 1-6 of 6 Results