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2016
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.Green, RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S., Blout CL, Bowling KM, Brothers KB, Burke W., Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K., Evans JP, et al. American journal of human genetics, 2016/05/12, (2016) Read More / View Supplemental Materials
Abstract
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.Amendola, LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y., Amaral MD, Berg JS, Biswas S., Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R., Green RC, Hart R., Horton C., Johnston JJ, Lebo MS, et al. American journal of human genetics, 2016/05/11, (2016) Read More / View Supplemental Materials
Abstract
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
2008
Mapping and sequencing of structural variation from eight human genomes.Kidd, JM, Cooper GM, Donahue WF, Hayden HS, Sampas N., Graves T., Hansen N., Teague B., Alkan C., Antonacci F., Haugen E., Zerr T., Yamada NA, Tsang P., Newman TL, Tüzün E., Cheng Z., Ebling HM, Tusneem N., David R., et al. Nature, 2008/05/01, Volume 453, Issue 7191, p.56-64, (2008) 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
  • Showing 1-6 of 6 Results