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  • Showing 1-5 of 5 Results
2016
A reference panel of 64,976 haplotypes for genotype imputation.McCarthy, S., Das S., Kretzschmar W., Delaneau O., Wood AR, Teumer A., Kang HM, Fuchsberger C., Danecek P., Sharp K., Luo Y., Sidore C., Wong AK, Timpson N., Koskinen S., Vrieze S., Scott LJ, Zhang H., Mahajan A., Veldink J., et al. Nature genetics, 2016/08/22, (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
2015
Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.Zheng, HF, Forgetta V., Hsu YH, Estrada K., Rosello-Diez A., Leo PJ, Dahia CL, Park-Min KH, Tobias JH, Kooperberg C., Kleinman A., Styrkarsdottir U., Liu CT, Uggla C., Evans DS, Nielson CM, Walter K., Pettersson-Kymmer U., McCarthy S., Eriksson J., et al. Nature, 2015/10/01, Volume 526, Issue 7571, p.112-7, (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
2009
The Sequence Alignment/Map format and SAMtools.Li, H., Handsaker B., Wysoker A., Fennell T., Ruan J., Homer N., Marth G., Abecasis G., Durbin R., and 1000 Genome Project Data Processing Subgroup Bioinformatics (Oxford, England), 2009/08/15, Volume 25, Issue 16, p.2078-9, (2009) Read More / View Supplemental Materials
Abstract
  • Showing 1-5 of 5 Results