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2014
De novo mutations in schizophrenia implicate synaptic networks.Fromer, M., Pocklington AJ, Kavanagh DH, Williams HJ, Dwyer S., Gormley P., Georgieva L., Rees E., Palta P., Ruderfer DM, Carrera N., Humphreys I., Johnson JS, Roussos P., Barker DD, Banks E., Milanova V., Grant SG, Hannon E., Rose SA, et al. Nature, 2014/02/13, Volume 506, Issue 7487, p.179-84, (2014) Read More / View Supplemental Materials
Abstract
A polygenic burden of rare disruptive mutations in schizophrenia.Purcell, SM, Moran JL, Fromer M., Ruderfer D., Solovieff N., Roussos P., O'Dushlaine C., Chambert K., Bergen SE, Kähler A., Duncan L., Stahl E., Genovese G., Fernández E., Collins MO, Komiyama NH, Choudhary JS, Magnusson PK, Banks E., Shakir K., et al. Nature, 2014/02/13, Volume 506, Issue 7487, p.185-90, (2014) Read More / View Supplemental Materials
Abstract
2012
Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth.Fromer, M., Moran JL, Chambert K., Banks E., Bergen SE, Ruderfer DM, Handsaker RE, McCarroll SA, O'Donovan MC, Owen MJ, Kirov G., Sullivan PF, Hultman CM, Sklar P., and Purcell SM American journal of human genetics, 2012/10/05, Volume 91, Issue 4, p.597-607, (2012) Read More / View Supplemental Materials
Abstract
Efficiency and power as a function of sequence coverage, SNP array density, and imputation.Flannick, J., Korn JM, Fontanillas P., Grant GB, Banks E., DePristo MA, and Altshuler D. PLoS computational biology, 2012/07/01, Volume 8, Issue 7, p.e1002604, (2012) Read More / View Supplemental Materials
Abstract
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
ContEst: estimating cross-contamination of human samples in next-generation sequencing data.Cibulskis, K., McKenna A., Fennell T., Banks E., DePristo M., and Getz G. Bioinformatics (Oxford, England), 2011/09/15, Volume 27, Issue 18, p.2601-2, (2011) Read More / View Supplemental Materials
Abstract
Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction.Shea, J., Agarwala V., Philippakis AA, Maguire J., Banks E., DePristo M., Thomson B., Guiducci C., Onofrio RC, Kathiresan S., Gabriel S., Burtt NP, Daly M. J., Groop L., Altshuler D., and Myocardial Infarction Genetics Consortium Nature genetics, 2011/07/24, Volume 43, Issue 8, p.801-5, (2011) Read More / View Supplemental Materials
Abstract
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
Next-generation sequencing for HLA typing of class I loci.Erlich, RL, Jia X., Anderson S., Banks E., Gao X., Carrington M., Gupta N., DePristo MA, Henn MR, Lennon NJ, and de Bakker PI BMC genomics, 2011/01/18, Volume 12, p.42, (2011) Read More / View Supplemental Materials
Abstract
2010
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.McKenna, A., Hanna M., Banks E., Sivachenko A., Cibulskis K., Kernytsky A., Garimella K., Altshuler D., Gabriel S., Daly M., and DePristo MA Genome research, 2010/09/01, Volume 20, Issue 9, p.1297-303, (2010) Read More / View Supplemental Materials
Abstract
  • Showing 1-10 of 10 Results