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  • Showing 1-12 of 12 Results
2013
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.Lim, ET, Raychaudhuri S., Sanders SJ, Stevens C., Sabo A., Macarthur DG, Neale BM, Kirby A., Ruderfer DM, Fromer M., Lek M., Liu L., Flannick J., Ripke S., Nagaswamy U., Muzny D., Reid JG, Hawes A., Newsham I., Wu Y., et al. Neuron, 2013/01/23, Volume 77, Issue 2, p.235-42, (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 high-resolution map of human evolutionary constraint using 29 mammals.Lindblad-Toh, K., Garber M., Zuk O., Lin MF, Parker BJ, Washietl S., Kheradpour P., Ernst J., Jordan G., Mauceli E., Ward LD, Lowe CB, Holloway AK, Clamp M., Gnerre S., Alföldi J., Beal K., Chang J., Clawson H., Cuff J., et al. Nature, 2011/10/12, Volume 478, Issue 7370, p.476-82, (2011) Read More / View Supplemental Materials
Abstract
Minimum information about a marker gene sequence (MIMARKS) and minimum information about any (x) sequence (MIxS) specifications.Yilmaz, P., Kottmann R., Field D., Knight R., Cole JR, Amaral-Zettler L., Gilbert JA, Karsch-Mizrachi I., Johnston A., Cochrane G., Vaughan R., Hunter C., Park J., Morrison N., Rocca-Serra P., Sterk P., Arumugam M., Bailey M., Baumgartner L., Birren BW, et al. Nature biotechnology, 2011/05/01, Volume 29, Issue 5, p.415-20, (2011) Read More / View Supplemental Materials
Abstract
2010
Integrating common and rare genetic variation in diverse human populations.International HapMap 3, Consortium, Altshuler DM, Gibbs RA, Peltonen L., Altshuler DM, Gibbs RA, Peltonen L., Dermitzakis E., Schaffner SF, Yu F., Peltonen L., Dermitzakis E., Bonnen PE, Altshuler DM, Gibbs RA, de Bakker PI, Deloukas P., Gabriel SB, Gwilliam R., Hunt S., et al. Nature, 2010/09/02, Volume 467, Issue 7311, p.52-8, (2010) Read More / View Supplemental Materials
Abstract
A catalog of reference genomes from the human microbiome.Human Microbiome Jumpstart Reference Strains, Consortium, Nelson KE, Weinstock GM, Highlander SK, Worley KC, Creasy HH, Wortman JR, Rusch DB, Mitreva M., Sodergren E., Chinwalla AT, Feldgarden M., Gevers D., Haas BJ, Madupu R., Ward DV, Birren BW, Gibbs RA, Methe B., Petrosino JF, et al. Science (New York, N.Y.), 2010/05/21, Volume 328, Issue 5981, p.994-9, (2010) Read More / View Supplemental Materials
Abstract
2008
Somatic mutations affect key pathways in lung adenocarcinoma.Ding, L., Getz G., Wheeler DA, Mardis ER, McLellan MD, Cibulskis K., Sougnez C., Greulich H., Muzny DM, Morgan MB, Fulton L., Fulton RS, Zhang Q., Wendl MC, Lawrence MS, Larson DE, Chen K., Dooling DJ, Sabo A., Hawes AC, et al. Nature, 2008/10/23, Volume 455, Issue 7216, p.1069-75, (2008) Read More / View Supplemental Materials
Abstract
2007
Characterizing the cancer genome in lung adenocarcinoma.Weir, BA, Woo MS, Getz G., Perner S., Ding L., Beroukhim R., Lin WM, Province MA, Kraja A., Johnson LA, Shah K., Sato M., Thomas RK, Barletta JA, Borecki IB, Broderick S., Chang AC, Chiang DY, Chirieac LR, Cho J., et al. Nature, 2007/12/06, Volume 450, Issue 7171, p.893-8, (2007) Read More / View Supplemental Materials
Abstract
28-way vertebrate alignment and conservation track in the UCSC Genome Browser.Miller, W., Rosenbloom K., Hardison RC, Hou M., Taylor J., Raney B., Burhans R., King DC, Baertsch R., Blankenberg D., Kosakovsky Pond SL, Nekrutenko A., Giardine B., Harris RS, Tyekucheva S., Diekhans M., Pringle TH, Murphy WJ, Lesk A., Weinstock GM, et al. Genome research, 2007/12/01, Volume 17, Issue 12, p.1797-808, (2007) Read More / View Supplemental Materials
Abstract
Genome-wide detection and characterization of positive selection in human populations.Sabeti, PC, Varilly P., Fry B., Lohmueller J., Hostetter E., Cotsapas C., Xie X., Byrne EH, McCarroll SA, Gaudet R., Schaffner SF, Lander E. S., International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, et al. Nature, 2007/10/18, Volume 449, Issue 7164, p.913-8, (2007) Read More / View Supplemental Materials
Abstract
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 1-12 of 12 Results