Now showing items 1-12 of 12

    • A framework for the interpretation of de novo mutation in human disease 

      Samocha, Kaitlin E.; Robinson, Elise B.; Sanders, Stephan J.; Stevens, Christine; Sabo, Aniko; McGrath, Lauren M.; Kosmicki, Jack A.; Rehnström, Karola; Mallick, Swapan; Kirby, Andrew; Wall, Dennis P.; MacArthur, Daniel G.; Gabriel, Stacey B.; dePristo, Mark; Purcell, Shaun M.; Palotie, Aarno; Boerwinkle, Eric; Buxbaum, Joseph D.; Cook, Edwin H.; Gibbs, Richard A.; Schellenberg, Gerard D.; Sutcliffe, James S.; Devlin, Bernie; Roeder, Kathryn; Neale, Benjamin M.; Daly, Mark J. (2014)
      Spontaneously arising (‘de novo’) mutations play an important role in medical genetics. For diseases with extensive locus heterogeneity – such as autism spectrum disorders (ASDs) – the signal from de novo mutations (DNMs) ...
    • Functional gene group analysis identifies synaptic gene groups as risk factor for schizophrenia 

      Lips, E S; Cornelisse, L N; Toonen, R F; Min, J.L.; Hultman, C M; Holmans, P A; O'Donovan, M C; Purcell, Shaun; Smit, A B; Verhage, M; Sullivan, P.F.; Visscher, P M; Posthuma, D (Nature Publishing Group, 2012)
      Schizophrenia is a highly heritable disorder with a polygenic pattern of inheritance and a population prevalence of ∼1%. Previous studies have implicated synaptic dysfunction in schizophrenia. We tested the accumulated ...
    • Genome-wide association study of Tourette Syndrome 

      Scharf, Jeremiah M.; Yu, Dongmei; Mathews, Carol A.; Neale, Benjamin M.; Stewart, S. Evelyn; Fagerness, Jesen A; Evans, Patrick; Gamazon, Eric; Edlund, Christopher K.; Service, Susan; Tikhomirov, Anna; Osiecki, Lisa; Illmann, Cornelia; Pluzhnikov, Anna; Konkashbaev, Anuar; Davis, Lea K; Han, Buhm; Crane, Jacquelyn; Moorjani, Priya; Crenshaw, Andrew T.; Parkin, Melissa A.; Reus, Victor I.; Lowe, Thomas L.; Rangel-Lugo, Martha; Chouinard, Sylvain; Dion, Yves; Girard, Simon; Cath, Danielle C; Smit, Jan H; King, Robert A.; Fernandez, Thomas; Leckman, James F.; Kidd, Kenneth K.; Kidd, Judith R.; Pakstis, Andrew J.; State, Matthew; Herrera, Luis Diego; Romero, Roxana; Fournier, Eduardo; Sandor, Paul; Barr, Cathy L; Phan, Nam; Gross-Tsur, Varda; Benarroch, Fortu; Pollak, Yehuda; Budman, Cathy L.; Bruun, Ruth D.; Erenberg, Gerald; Naarden, Allan L; Lee, Paul C; Weiss, Nicholas; Kremeyer, Barbara; Berrío, Gabriel Bedoya; Campbell, Desmond; Silgado, Julio C. Cardona; Ochoa, William Cornejo; Restrepo, Sandra C. Mesa; Muller, Heike; Duarte, Ana V. Valencia; Lyon, Gholson J; Leppert, Mark; Morgan, Jubel; Weiss, Robert; Grados, Marco A.; Anderson, Kelley; Davarya, Sarah; Singer, Harvey; Walkup, John; Jankovic, Joseph; Tischfield, Jay A.; Heiman, Gary A.; Gilbert, Donald L.; Hoekstra, Pieter J.; Robertson, Mary M.; Kurlan, Roger; Liu, Chunyu; Gibbs, J. Raphael; Singleton, Andrew; Hardy, John; Strengman, Eric; Ophoff, Roel; Wagner, Michael; Moessner, Rainald; Mirel, Daniel B.; Posthuma, Danielle; Sabatti, Chiara; Eskin, Eleazar; Conti, David V.; Knowles, James A.; Ruiz-Linares, Andres; Rouleau, Guy A.; Purcell, Shaun; Heutink, Peter; Oostra, Ben A.; McMahon, William; Freimer, Nelson; Cox, Nancy J.; Pauls, David L. (2012)
      Tourette Syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility ...
    • Hypothesis-Based Analysis of Gene-Gene Interactions and Risk of Myocardial Infarction 

      Lucas, Gavin; Lluís-Ganella, Carla; Subirana, Isaac; Musameh, Muntaser D.; Gonzalez, Juan Ramon; Nelson, Christopher P.; Sentí, Mariano; Schwartz, Stephen M.; Siscovick, David; O’Donnell, Christopher J.; Melander, Olle; Salomaa, Veikko; Samani, Nilesh J.; Kathiresan, Sekar; Elosua, Roberto; Purcell, Shaun; Altshuler, David Matthew (Public Library of Science, 2012)
      The genetic loci that have been found by genome-wide association studies to modulate risk of coronary heart disease explain only a fraction of its total variance, and gene-gene interactions have been proposed as a potential ...
    • Multi-Locus Genome-Wide Association Analysis Supports the Role of Glutamatergic Synaptic Transmission in the Etiology of Major Depressive Disorder 

      Lee, Phil Hyoun; Perlis, Roy H.; Jung, Jae-Yoon; Byrne, Enda M.; Haddad, Stephen; Rueckert, Erroll; Siburian, Richie; Mayerfeld, Catherine E.; Heath, Andrew C.; Pergadia, Michele L.; Madden, Pamela A.F.; Boomsma, Dorret I.; Penninx, Brenda W.; Sklar, Pamela; Martin, Nicholas G.; Purcell, Shaun; Smoller, Jordan W; Wray, Naomi R. (Nature Publishing Group, 2012)
      Major depressive disorder (MDD) is a common psychiatric illness characterized by low mood and loss of interest in pleasurable activities. Despite years of effort, recent genome-wide association studies (GWAS) have identified ...
    • De Novo CNV Analysis Implicates Specific Abnormalities of Postsynaptic Signalling Complexes in the Pathogenesis of Schizophrenia 

      Kirov, G; Pocklington, A J; Holmans, P; Ivanov, D; Ikeda, M; Ruderfer, D; Moran, Jonathan; Chambert, K; Toncheva, D; Georgieva, L; Grozeva, D; Fjodorova, M; Wollerton, R; Rees, E; Nikolov, I; van de Lagemaat, L N; Bayés, À; Fernandez, E; Olason, P I; Böttcher, Y; Komiyama, N H; Collins, M O; Choudhary, J; Stefansson, K; Stefansson, H; Grant, S G N; Purcell, Shaun; Sklar, P; O'Donovan, M C; Owen, M J (Nature Publishing Group, 2012)
      A small number of rare, recurrent genomic copy number variants (CNVs) are known to substantially increase susceptibility to schizophrenia. As a consequence of the low fecundity in people with schizophrenia and other ...
    • De novo CNVs in bipolar affective disorder and schizophrenia 

      Georgieva, Lyudmila; Rees, Elliott; Moran, Jennifer L.; Chambert, Kimberly D.; Milanova, Vihra; Craddock, Nicholas; Purcell, Shaun; Sklar, Pamela; McCarroll, Steven; Holmans, Peter; O'Donovan, Michael C.; Owen, Michael J.; Kirov, George (Oxford University Press, 2014)
      An increased rate of de novo copy number variants (CNVs) has been found in schizophrenia (SZ), autism and developmental delay. An increased rate has also been reported in bipolar affective disorder (BD). Here, in a larger ...
    • Partitioning heritability by functional annotation using genome-wide association summary statistics 

      Finucane, Hilary K.; Bulik-Sullivan, Brendan; Gusev, Alexander; Trynka, Gosia; Reshef, Yakir; Loh, Po-Ru; Anttila, Verneri; Xu, Han; Zang, Chongzhi; Farh, Kyle; Ripke, Stephan; Day, Felix R.; Consortium, ReproGen; Purcell, Shaun; Stahl, Eli; Lindstrom, Sara; Perry, John R. B.; Okada, Yukinori; Raychaudhuri, Soumya; Daly, Mark; Patterson, Nick; Neale, Benjamin M.; Price, Alkes L. (2015)
      Recent work has demonstrated that some functional categories of the genome contribute disproportionately to the heritability of complex diseases. Here, we analyze a broad set of functional elements, including cell-type-specific ...
    • The Promises and Pitfalls of Genoeconomics 

      Benjamin, Daniel J.; Cesarini, David; Chabris, Christopher F.; Glaeser, Edward Ludwig; Laibson, David I.; Guðnason, Vilmundur; Harris, Tamara B.; Launer, Lenore J.; Purcell, Shaun; Smith, Albert Vernon; Johannesson, Magnus; Magnusson, Patrik K.E.; Christakis, Nicholas Alexander; Atwood, Craig S.; Hebert, Benjamin Michael; Freese, Jeremy; Hauser, Robert M.; Hauser, Taissa S.; Hultman, Christina M.; Lichtenstein, Paul; Beauchamp, Jonathan P.; Grankvist, Alexander (Annual Reviews, 2012)
      This article reviews existing research at the intersection of genetics and economics, presents some new findings that illustrate the state of genoeconomics research, and surveys the prospects of this emerging field. Twin ...
    • Protocol for Investigating Genetic Determinants of Posttraumatic Stress Disorder in Women from the Nurses' Health Study II 

      Koenen, Karestan; DeVivo, Immaculata; Rich-Edwards, Janet Wilson; Smoller, Jordan W; Wright, Rosalind Jo; Purcell, Shaun (BioMed Central, 2009)
      Background: One in nine American women will meet criteria for the diagnosis of posttraumatic stress disorder (PTSD) in their lifetime. Although twin studies suggest genetic influences account for substantial variance in ...
    • Second-generation PLINK: rising to the challenge of larger and richer datasets 

      Chang, Christopher C; Chow, Carson C; Tellier, Laurent CAM; Vattikuti, Shashaank; Purcell, Shaun M; Lee, James J (BioMed Central, 2015)
      Background: PLINK 1 is a widely used open-source C/C++ toolset for genome-wide association studies (GWAS) and research in population genetics. However, the steady accumulation of data from imputation and whole-genome ...
    • Testing For An Unusual Distribution Of Rare Variants 

      Neale, Benjamin Michael; Rivas, Manuel A.; Voight, Benjamin F.; Altshuler, David Matthew; Devlin, Bernie; Orho-Melander, Marju; Kathiresan, Sekar; Purcell, Shaun; Roeder, Kathryn; Daly, Mark Joseph (Public Library of Science, 2011)
      Technological advances make it possible to use high-throughput sequencing as a primary discovery tool of medical genetics, specifically for assaying rare variation. Still this approach faces the analytic challenge that the ...