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2014
Guidelines for investigating causality of sequence variants in human disease.Macarthur, DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J., Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly M. J., Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, et al. Nature, 2014/04/24, Volume 508, Issue 7497, p.469-76, (2014) Read More / View Supplemental Materials
Abstract
2007
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.ENCODE Project, Consortium, Birney E., Stamatoyannopoulos JA, Dutta A., Guigó R., Gingeras TR, Margulies EH, Weng Z., Snyder M., Dermitzakis ET, Thurman RE, Kuehn MS, Taylor CM, Neph S., Koch CM, Asthana S., Malhotra A., Adzhubei I., Greenbaum JA, Andrews RM, et al. Nature, 2007/06/14, Volume 447, Issue 7146, p.799-816, (2007) Read More / View Supplemental Materials
Abstract
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome.Margulies, EH, Cooper GM, Asimenos G., Thomas DJ, Dewey CN, Siepel A., Birney E., Keefe D., Schwartz AS, Hou M., Taylor J., Nikolaev S., Montoya-Burgos JI, Löytynoja A., Whelan S., Pardi F., Massingham T., Brown JB, Bickel P., Holmes I., et al. Genome research, 2007/06/01, Volume 17, Issue 6, p.760-74, (2007) Read More / View Supplemental Materials
Abstract
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