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  • Showing 1-43 of 43 Results
2012
Informed conditioning on clinical covariates increases power in case-control association studies.Zaitlen, N., Lindström S., Pasaniuc B., Cornelis M., Genovese G., Pollack S., Barton A., Bickeböller H., Bowden DW, Eyre S., Freedman BI, Friedman DJ, Field JK, Groop L., Haugen A., Heinrich J., Henderson BE, Hicks PJ, Hocking LJ, Kolonel LN, et al. PLoS genetics, 2012/11/01, Volume 8, Issue 11, p.e1003032, (2012) Read More / View Supplemental Materials
Abstract
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits.Voight, BF, Kang HM, Ding J., Palmer CD, Sidore C., Chines PS, Burtt NP, Fuchsberger C., Li Y., Erdmann J., Frayling TM, Heid IM, Jackson AU, Johnson T., Kilpeläinen TO, Lindgren CM, Morris AP, Prokopenko I., Randall JC, Saxena R., et al. PLoS genetics, 2012/08/01, Volume 8, Issue 8, p.e1002793, (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
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study.Voight, BF, Peloso GM, Orho-Melander M., Frikke-Schmidt R., Barbalic M., Jensen MK, Hindy G., Hólm H., Ding EL, Johnson T., Schunkert H., Samani NJ, Clarke R., Hopewell JC, Thompson JF, Li M., Thorleifsson G., Newton-Cheh C., Musunuru K., Pirruccello JP, et al. Lancet, 2012/05/17, (2012) Read More / View Supplemental Materials
Abstract
2011 Curt Stern Award Address.Altshuler, D. American journal of human genetics, 2012/03/09, Volume 90, Issue 3, p.407-409, (2012) Read More / View Supplemental Materials
Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci.Saxena, R., Elbers CC, Guo Y., Peter I., Gaunt TR, Mega JL, Lanktree MB, Tare A., Castillo BA, Li YR, Johnson T., Bruinenberg M., Gilbert-Diamond D., Rajagopalan R., Voight BF, Balasubramanyam A., Barnard J., Bauer F., Baumert J., Bhangale T., et al. American journal of human genetics, 2012/03/09, Volume 90, Issue 3, p.410-425, (2012) Read More / View Supplemental Materials
Abstract
2011
Transferability of tag SNPs to capture common genetic variation in DNA repair genes across multiple populations.de Bakker, PI, Graham RR, Altshuler D., Henderson BE, and Haiman CA Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing, 2011/12/08, p.478-86, (2011) Read More / View Supplemental Materials
Abstract
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.Rivas, MA, Beaudoin M., Gardet A., Stevens C., Sharma Y., Zhang CK, Boucher G., Ripke S., Ellinghaus D., Burtt N., Fennell T., Kirby A., Latiano A., Goyette P., Green T., Halfvarson J., Haritunians T., Korn JM, Kuruvilla F., Lagacé C., et al. Nature genetics, 2011/10/09, Volume 43, Issue 11, p.1066-73, (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
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2010
Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function.Raychaudhuri, S., Korn JM, McCarroll SA, International Schizophrenia Consortium, Altshuler D., Sklar P., Purcell S., and Daly M. J. PLoS genetics, 2010/09/09, Volume 6, Issue 9, (2010) Read More / View Supplemental Materials
Abstract
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
Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.Segrè, AV, DIAGRAM Consortium, investigators MAGIC, Groop L., Mootha VK, Daly M. J., and Altshuler D. PLoS genetics, 2010/08/12, Volume 6, Issue 8, (2010) Read More / View Supplemental Materials
Abstract
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.Voight, BF, Scott LJ, Steinthorsdottir V., Morris AP, Dina C., Welch RP, Zeggini E., Huth C., Aulchenko YS, Thorleifsson G., McCulloch LJ, Ferreira T., Grallert H., Amin N., Wu G., Willer CJ, Raychaudhuri S., McCarroll SA, Langenberg C., Hofmann OM, et al. Nature genetics, 2010/07/01, Volume 42, Issue 7, p.579-89, (2010) Read More / View Supplemental Materials
Abstract
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.Saxena, R., Hivert MF, Langenberg C., Tanaka T., Pankow JS, Vollenweider P., Lyssenko V., Bouatia-Naji N., Dupuis J., Jackson AU, Kao WH, Li M., Glazer NL, Manning AK, Luan J., Stringham HM, Prokopenko I., Johnson T., Grarup N., Boesgaard TW, et al. Nature genetics, 2010/02/01, Volume 42, Issue 2, p.142-8, (2010) Read More / View Supplemental Materials
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2009
Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.Raychaudhuri, S., Plenge RM, Rossin EJ, Ng AC, International Schizophrenia Consortium, Purcell SM, Sklar P., Scolnick EM, Xavier RJ, Altshuler D., and Daly M. J. PLoS genetics, 2009/06/01, Volume 5, Issue 6, p.e1000534, (2009) Read More / View Supplemental Materials
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2008
Genetic mapping in human disease.Altshuler, D., Daly M. J., and Lander E. S. Science (New York, N.Y.), 2008/11/07, Volume 322, Issue 5903, p.881-8, (2008) Read More / View Supplemental Materials
Abstract
Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines.Choy, E., Yelensky R., Bonakdar S., Plenge RM, Saxena R., De Jager PL, Shaw SY, Wolfish CS, Slavik JM, Cotsapas C., Rivas M., Dermitzakis ET, Cahir-McFarland E., Kieff E., Hafler D., Daly M. J., and Altshuler D. PLoS genetics, 2008/11/01, Volume 4, Issue 11, p.e1000287, (2008) Read More / View Supplemental Materials
Abstract
Common variants at CD40 and other loci confer risk of rheumatoid arthritis.Raychaudhuri, S., Remmers EF, Lee AT, Hackett R., Guiducci C., Burtt NP, Gianniny L., Korman BD, Padyukov L., Kurreeman FA, Chang M., Catanese JJ, Ding B., Wong S., van der Helm-van Mil AH, Neale BM, Coblyn J., Cui J., Tak PP, Wolbink GJ, et al. Nature genetics, 2008/10/01, Volume 40, Issue 10, p.1216-23, (2008) Read More / View Supplemental Materials
Abstract
Integrated detection and population-genetic analysis of SNPs and copy number variation.McCarroll, SA, Kuruvilla FG, Korn JM, Cawley S., Nemesh J., Wysoker A., Shapero MH, de Bakker PI, Maller JB, Kirby A., Elliott AL, Parkin M., Hubbell E., Webster T., Mei R., Veitch J., Collins PJ, Handsaker R., Lincoln S., Nizzari M., et al. Nature genetics, 2008/10/01, Volume 40, Issue 10, p.1166-74, (2008) Read More / View Supplemental Materials
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Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs.Korn, JM, Kuruvilla FG, McCarroll SA, Wysoker A., Nemesh J., Cawley S., Hubbell E., Veitch J., Collins PJ, Darvishi K., Lee C., Nizzari MM, Gabriel SB, Purcell S., Daly M. J., and Altshuler D. Nature genetics, 2008/10/01, Volume 40, Issue 10, p.1253-60, (2008) Read More / View Supplemental Materials
Abstract
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.Graham, RR, Cotsapas C., Davies L., Hackett R., Lessard CJ, Leon JM, Burtt NP, Guiducci C., Parkin M., Gates C., Plenge RM, Behrens TW, Wither JE, Rioux JD, Fortin PR, Graham DC, Wong AK, Vyse TJ, Daly M. J., Altshuler D., et al. Nature genetics, 2008/09/01, Volume 40, Issue 9, p.1059-61, (2008) Read More / View Supplemental Materials
Abstract
2007
Two independent alleles at 6q23 associated with risk of rheumatoid arthritis.Plenge, RM, Cotsapas C., Davies L., Price AL, de Bakker PI, Maller J., Pe'er I., Burtt NP, Blumenstiel B., DeFelice M., Parkin M., Barry R., Winslow W., Healy C., Graham RR, Neale BM, Izmailova E., Roubenoff R., Parker AN, Glass R., et al. Nature genetics, 2007/12/01, Volume 39, Issue 12, p.1477-82, (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
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TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.Plenge, RM, Seielstad M., Padyukov L., Lee AT, Remmers EF, Ding B., Liew A., Khalili H., Chandrasekaran A., Davies LR, Li W., Tan AK, Bonnard C., Ong RT, Thalamuthu A., Pettersson S., Liu C., Tian C., Chen WV, Carulli JP, et al. The New England journal of medicine, 2007/09/20, Volume 357, Issue 12, p.1199-209, (2007) Read More / View Supplemental Materials
Abstract
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.and of Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, Novartis Institutes BioMedical Rese, Saxena R., Voight BF, Lyssenko V., Burtt NP, de Bakker PI, Chen H., Roix JJ, Kathiresan S., Hirschhorn JN, Daly M. J., Hughes TE, Groop L., Altshuler D., Almgren P., Florez JC, Meyer J., Ardlie K., Bengtsson Boström K., Isomaa B., et al. Science (New York, N.Y.), 2007/06/01, Volume 316, Issue 5829, p.1331-6, (2007) Read More / View Supplemental Materials
Abstract
Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.Graham, RR, Kyogoku C., Sigurdsson S., Vlasova IA, Davies LR, Baechler EC, Plenge RM, Koeuth T., Ortmann WA, Hom G., Bauer JW, Gillett C., Burtt N., Cunninghame Graham DS, Onofrio R., Petri M., Gunnarsson I., Svenungsson E., Rönnblom L., Nordmark G., et al. Proceedings of the National Academy of Sciences of the United States of America, 2007/04/17, Volume 104, Issue 16, p.6758-63, (2007) Read More / View Supplemental Materials
Abstract
Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes.Winckler, W., Weedon MN, Graham RR, McCarroll SA, Purcell S., Almgren P., Tuomi T., Gaudet D., Boström KB, Walker M., Hitman G., Hattersley AT, McCarthy MI, Ardlie KG, Hirschhorn JN, Daly M. J., Frayling TM, Groop L., and Altshuler D. Diabetes, 2007/03/01, Volume 56, Issue 3, p.685-93, (2007) Read More / View Supplemental Materials
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2006
Transferability of tag SNPs in genetic association studies in multiple populations.de Bakker, PI, Burtt NP, Graham RR, Guiducci C., Yelensky R., Drake JA, Bersaglieri T., Penney KL, Butler J., Young S., Onofrio RC, Lyon HN, Stram DO, Haiman CA, Freedman ML, Zhu X., Cooper R., Groop L., Kolonel LN, Henderson BE, et al. Nature genetics, 2006/11/01, Volume 38, Issue 11, p.1298-303, (2006) Read More / View Supplemental Materials
Abstract
Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals.Saxena, R., Gianniny L., Burtt NP, Lyssenko V., Giuducci C., Sjögren M., Florez JC, Almgren P., Isomaa B., Orho-Melander M., Lindblad U., Daly M. J., Tuomi T., Hirschhorn JN, Ardlie KG, Groop LC, and Altshuler D. Diabetes, 2006/10/01, Volume 55, Issue 10, p.2890-5, (2006) Read More / View Supplemental Materials
Abstract
Positive natural selection in the human lineage.Sabeti, PC, Schaffner SF, Fry B., Lohmueller J., Varilly P., Shamovsky O., Palma A., Mikkelsen TS, Altshuler D., and Lander E. S. Science (New York, N.Y.), 2006/06/16, Volume 312, Issue 5780, p.1614-20, (2006) Read More / View Supplemental Materials
Abstract
A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.Graham, RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, Ortmann WA, Koeuth T., González Escribano MF, Argentine and Spanish Collaborative Groups, Pons-Estel B., Petri M., Daly M., Gregersen PK, Martín J., Altshuler D., Behrens TW, and Alarcón-Riquelme ME Nature genetics, 2006/05/01, Volume 38, Issue 5, p.550-5, (2006) Read More / View Supplemental Materials
Abstract
Searching for signals of evolutionary selection in 168 genes related to immune function.Walsh, EC, Sabeti P., Hutcheson HB, Fry B., Schaffner SF, de Bakker PI, Varilly P., Palma AA, Roy J., Cooper R., Winkler C., Zeng Y., de The G., Lander E. S., O'Brien S., and Altshuler D. Human genetics, 2006/03/01, Volume 119, Issue 1-2, p.92-102, (2006) Read More / View Supplemental Materials
Abstract
2005
Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4.Plenge, RM, Padyukov L., Remmers EF, Purcell S., Lee AT, Karlson EW, Wolfe F., Kastner DL, Alfredsson L., Altshuler D., Gregersen PK, Klareskog L., and Rioux JD American journal of human genetics, 2005/12/01, Volume 77, Issue 6, p.1044-60, (2005) Read More / View Supplemental Materials
Abstract
Calibrating a coalescent simulation of human genome sequence variation.Schaffner, SF, Foo C., Gabriel S., Reich D., Daly M. J., and Altshuler D. Genome research, 2005/11/01, Volume 15, Issue 11, p.1576-83, (2005) Read More / View Supplemental Materials
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The case for selection at CCR5-Delta32.Sabeti, PC, Walsh E., Schaffner SF, Varilly P., Fry B., Hutcheson HB, Cullen M., Mikkelsen TS, Roy J., Patterson N., Cooper R., Reich D., Altshuler D., O'Brien S., and Lander E. S. PLoS biology, 2005/11/01, Volume 3, Issue 11, p.e378, (2005) Read More / View Supplemental Materials
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A haplotype-based case-control study of BRCA1 and sporadic breast cancer risk.Freedman, ML, Penney KL, Stram DO, Riley S., McKean-Cowdin R., Le Marchand L., Altshuler D., and Haiman CA Cancer research, 2005/08/15, Volume 65, Issue 16, p.7516-22, (2005) Read More / View Supplemental Materials
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Genetics. Harvesting medical information from the human family tree.Altshuler, D., and Clark AG Science (New York, N.Y.), 2005/02/18, Volume 307, Issue 5712, p.1052-3, (2005) Read More / View Supplemental Materials
2004
Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort.Freedman, ML, Penney KL, Stram DO, Le Marchand L., Hirschhorn JN, Kolonel LN, Altshuler D., Henderson BE, and Haiman CA Human molecular genetics, 2004/10/15, Volume 13, Issue 20, p.2431-41, (2004) Read More / View Supplemental Materials
Abstract
Corticosteroid pharmacogenetics: association of sequence variants in CRHR1 with improved lung function in asthmatics treated with inhaled corticosteroids.Tantisira, KG, Lake S., Silverman ES, Palmer LJ, Lazarus R., Silverman EK, Liggett SB, Gelfand EW, Rosenwasser LJ, Richter B., Israel E., Wechsler M., Gabriel S., Altshuler D., Lander E., Drazen J., and Weiss ST Human molecular genetics, 2004/07/01, Volume 13, Issue 13, p.1353-9, (2004) Read More / View Supplemental Materials
Abstract
Methods for high-density admixture mapping of disease genes.Patterson, N., Hattangadi N., Lane B., Lohmueller KE, Hafler DA, Oksenberg JR, Hauser SL, Smith MW, O'Brien SJ, Altshuler D., Daly M. J., and Reich D. American journal of human genetics, 2004/05/01, Volume 74, Issue 5, p.979-1000, (2004) Read More / View Supplemental Materials
Abstract
Erralpha and Gabpa/b specify PGC-1alpha-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle.Mootha, VK, Handschin C., Arlow D., Xie X., St Pierre J., Sihag S., Yang W., Altshuler D., Puigserver P., Patterson N., Willy PJ, Schulman IG, Heyman RA, Lander E. S., and Spiegelman BM Proceedings of the National Academy of Sciences of the United States of America, 2004/04/27, Volume 101, Issue 17, p.6570-5, (2004) Read More / View Supplemental Materials
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Assessing the impact of population stratification on genetic association studies.Freedman, ML, Reich D., Penney KL, McDonald GJ, Mignault AA, Patterson N., Gabriel SB, Topol EJ, Smoller JW, Pato CN, Pato MT, Petryshen TL, Kolonel LN, Lander E. S., Sklar P., Henderson B., Hirschhorn JN, and Altshuler D. Nature genetics, 2004/04/01, Volume 36, Issue 4, p.388-93, (2004) Read More / View Supplemental Materials
Abstract
  • Showing 1-43 of 43 Results