MATCHCLIP: locate precise breakpoints for copy number variation using CIGAR string by matching soft clipped reads

por Wu, Yinghua, Tian, Lifeng, Pirastu, Mario, Stambolian, Dwight, Li, Hongzhe
Publicado 2013

Environmental and Genetic Contribution to Hypertension Prevalence: Data from an Epidemiological Survey on Sardinian Genetic Isolates

por Biino, Ginevra, Parati, Gianfranco, Concas, Maria Pina, Adamo, Mauro, Angius, Andrea, Vaccargiu, Simona, Pirastu, Mario
Publicado 2013

Phylogeny and Patterns of Diversity of Goat mtDNA Haplogroup A Revealed by Resequencing Complete Mitogenomes

por Doro, Maria Grazia, Piras, Daniela, Leoni, Giovanni Giuseppe, Casu, Giuseppina, Vaccargiu, Simona, Parracciani, Debora, Naitana, Salvatore, Pirastu, Mario, Novelletto, Andrea
Publicado 2014

Browsing Isolated Population Data

por Mancosu, Gianmaria, Cosso, Massimiliano, Marras, Francesca, Borlino, Cesare Cappio, Ledda, Giuseppe, Manias, Teresa, Adamo, Mauro, Serra, Donatella, Melis, Paola, Pirastu, Mario
Publicado 2005

A strategy analysis for genetic association studies with known inbreeding

por Cabras, Stefano, Castellanos, Maria Eugenia, Biino, Ginevra, Persico, Ivana, Sassu, Alessandro, Casula, Laura, del Giacco, Stefano, Bertolino, Francesco, Pirastu, Mario, Pirastu, Nicola
Publicado 2011

Dissecting metabolic syndrome components: data from an epidemiologic survey in a genetic isolate

por Biino, Ginevra, Concas, Maria Pina, Cena, Hellas, Parracciani, Debora, Vaccargiu, Simona, Cosso, Massimiliano, Marras, Francesca, D’Esposito, Vittoria, Beguinot, Francesco, Pirastu, Mario
Publicado 2015

Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection

por Vuckovic, Dragana, Mezzavilla, Massimo, Cocca, Massimiliano, Morgan, Anna, Brumat, Marco, Catamo, Eulalia, Concas, Maria Pina, Biino, Ginevra, Franzè, Annamaria, Ambrosetti, Umberto, Pirastu, Mario, Gasparini, Paolo, Girotto, Giorgia
Publicado 2018

High Differentiation among Eight Villages in a Secluded Area of Sardinia Revealed by Genome-Wide High Density SNPs Analysis

por Pistis, Giorgio, Piras, Ignazio, Pirastu, Nicola, Persico, Ivana, Sassu, Alessandro, Picciau, Andrea, Prodi, Dionigio, Fraumene, Cristina, Mocci, Evelina, Manias, Maria Teresa, Atzeni, Rossano, Cosso, Massimiliano, Pirastu, Mario, Angius, Andrea
Publicado 2009

Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome

por Pecci, Alessandro, Biino, Ginevra, Fierro, Tiziana, Bozzi, Valeria, Mezzasoma, Annamaria, Noris, Patrizia, Ramenghi, Ugo, Loffredo, Giuseppe, Fabris, Fabrizio, Momi, Stefania, Magrini, Umberto, Pirastu, Mario, Savoia, Anna, Balduini, Carlo, Gresele, Paolo
Publicado 2012

Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations

por Mocci, Evelina, Concas, Maria P, Fanciulli, Manuela, Pirastu, Nicola, Adamo, Mauro, Cabras, Valentina, Fraumene, Cristina, Persico, Ivana, Sassu, Alessandro, Picciau, Andrea, Prodi, Dionigio A, Serra, Donatella, Biino, Ginevra, Pirastu, Mario, Angius, Andrea
Publicado 2009

Application of a New Method for GWAS in a Related Case/Control Sample with Known Pedigree Structure: Identification of New Loci for Nephrolithiasis

por Tore, Silvia, Casula, Stefania, Casu, Giuseppina, Concas, Maria Pina, Pistidda, Paola, Persico, Ivana, Sassu, Alessandro, Maestrale, Giovanni Battista, Mele, Caterina, Caruso, Maria Rosa, Bonerba, Bibiana, Usai, Paolo, Deiana, Ivo, Thornton, Timothy, Pirastu, Mario, Forabosco, Paola
Publicado 2011

Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss

por Vuckovic, Dragana, Dawson, Sally, Scheffer, Deborah I., Rantanen, Taina, Morgan, Anna, Di Stazio, Mariateresa, Vozzi, Diego, Nutile, Teresa, Concas, Maria P., Biino, Ginevra, Nolan, Lisa, Bahl, Aileen, Loukola, Anu, Viljanen, Anne, Davis, Adrian, Ciullo, Marina, Corey, David P., Pirastu, Mario, Gasparini, Paolo, Girotto, Giorgia
Publicado 2015

Age- And Sex-Related Variations in Platelet Count in Italy: A Proposal of Reference Ranges Based on 40987 Subjects' Data

por Biino, Ginevra, Santimone, Iolanda, Minelli, Cosetta, Sorice, Rossella, Frongia, Bruno, Traglia, Michela, Ulivi, Sheila, Di Castelnuovo, Augusto, Gögele, Martin, Nutile, Teresa, Francavilla, Marcella, Sala, Cinzia, Pirastu, Nicola, Cerletti, Chiara, Iacoviello, Licia, Gasparini, Paolo, Toniolo, Daniela, Ciullo, Marina, Pramstaller, Peter, Pirastu, Mario, de Gaetano, Giovanni, Balduini, Carlo L.
Publicado 2013

Haplotype Affinities Resolve a Major Component of Goat (Capra hircus) MtDNA D-Loop Diversity and Reveal Specific Features of the Sardinian Stock

por Piras, Daniela, Doro, Maria Grazia, Casu, Giuseppina, Melis, Paola Maria, Vaccargiu, Simona, Piras, Ignazio, Parracciani, Debora, Stradoni, Roberta, Frongia, Bruno, Lai, Graziano, Sale, Salvatore, Cattari, Walter, Piras, Roberto, Querci, Ombretta, Demuro, Piergiorgio, Cui, Sandro, Atzori, Franco, Mancosu, Marco, Marchiori, Francesca, Cammelli, Rossana, Spiga, Alessandra, Loddo, Pier Paolo, Pili, Gianfranco, Boi, Roberto, Argiolas, Giuseppe, Mereu, Paolo, Leoni, Giovanni Giuseppe, Naitana, Salvatore, Pirastu, Mario, Novelletto, Andrea
Publicado 2012

Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies

por Choi, Seung Hoan, Ruggiero, Daniela, Sorice, Rossella, Song, Ci, Nutile, Teresa, Vernon Smith, Albert, Concas, Maria Pina, Traglia, Michela, Barbieri, Caterina, Ndiaye, Ndeye Coumba, Stathopoulou, Maria G., Lagou, Vasiliki, Maestrale, Giovanni Battista, Sala, Cinzia, Debette, Stephanie, Kovacs, Peter, Lind, Lars, Lamont, John, Fitzgerald, Peter, Tönjes, Anke, Gudnason, Vilmundur, Toniolo, Daniela, Pirastu, Mario, Bellenguez, Celine, Vasan, Ramachandran S., Ingelsson, Erik, Leutenegger, Anne-Louise, Johnson, Andrew D., DeStefano, Anita L., Visvikis-Siest, Sophie, Seshadri, Sudha, Ciullo, Marina
Publicado 2016

Genome-Wide Meta-Analysis of Myopia and Hyperopia Provides Evidence for Replication of 11 Loci

por Simpson, Claire L., Wojciechowski, Robert, Oexle, Konrad, Murgia, Federico, Portas, Laura, Li, Xiaohui, Verhoeven, Virginie J. M., Vitart, Veronique, Schache, Maria, Hosseini, S. Mohsen, Hysi, Pirro G., Raffel, Leslie J., Cotch, Mary Frances, Chew, Emily, Klein, Barbara E. K., Klein, Ronald, Wong, Tien Yin, van Duijn, Cornelia M., Mitchell, Paul, Saw, Seang Mei, Fossarello, Maurizio, Wang, Jie Jin, Polašek, Ozren, Campbell, Harry, Rudan, Igor, Oostra, Ben A., Uitterlinden, André G., Hofman, Albert, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart C., Vingerling, Johannes R., Döring, Angela, Bettecken, Thomas, Bencic, Goran, Gieger, Christian, Wichmann, H.-Erich, Wilson, James F., Venturini, Cristina, Fleck, Brian, Cumberland, Phillippa M., Rahi, Jugnoo S., Hammond, Chris J., Hayward, Caroline, Wright, Alan F., Paterson, Andrew D., Baird, Paul N., Klaver, Caroline C. W., Rotter, Jerome I., Pirastu, Mario, Meitinger, Thomas, Bailey-Wilson, Joan E., Stambolian, Dwight
Publicado 2014

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

por Li, Qing, Wojciechowski, Robert, Simpson, Claire L., Hysi, Pirro G., Verhoeven, Virginie J. M., Ikram, Mohammad Kamran, Höhn, René, Vitart, Veronique, Hewitt, Alex W., Oexle, Konrad, Mäkelä, Kari-Matti, MacGregor, Stuart, Pirastu, Mario, Fan, Qiao, Cheng, Ching-Yu, St Pourcain, Beaté, McMahon, George, Kemp, John P., Northstone, Kate, Rahi, Jugnoo S., Cumberland, Phillippa M., Martin, Nicholas G., Sanfilippo, Paul G., Lu, Yi, Wang, Ya Xing, Hayward, Caroline, Polašek, Ozren, Campbell, Harry, Bencic, Goran, Wright, Alan F., Wedenoja, Juho, Zeller, Tanja, Schillert, Arne, Mirshahi, Alireza, Lackner, Karl, Yip, Shea Ping, Yap, Maurice K. H., Ried, Janina S., Gieger, Christian, Murgia, Federico, Wilson, James F., Fleck, Brian, Yazar, Seyhan, Vingerling, Johannes R., Hofman, Albert, Uitterlinden, André, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart, Oostra, Ben A., Zhou, Xin, Teo, Yik-Ying, Tai, E. Shyong, Vithana, Eranga, Barathi, Veluchamy, Zheng, Yingfeng, Siantar, Rosalynn Grace, Neelam, Kumari, Shin, Youchan, Lam, Janice, Yonova-Doing, Ekaterina, Venturini, Cristina, Hosseini, S. Mohsen, Wong, Hoi-Suen, Lehtimäki, Terho, Kähönen, Mika, Raitakari, Olli, Timpson, Nicholas J., Evans, David M., Khor, Chiea-Chuen, Aung, Tin, Young, Terri L., Mitchell, Paul, Klein, Barbara, van Duijn, Cornelia M., Meitinger, Thomas, Jonas, Jost B., Baird, Paul N., Mackey, David A., Wong, Tien Yin, Saw, Seang-Mei, Pärssinen, Olavi, Stambolian, Dwight, Hammond, Christopher J., Klaver, Caroline C. W., Williams, Cathy, Paterson, Andrew D., Bailey-Wilson, Joan E., Guggenheim, Jeremy A.
Publicado 2014

Meta-Analysis of Genome-Wide Association Studies Identifies Six New Loci for Serum Calcium Concentrations

por O'Seaghdha, Conall M., Wu, Hongsheng, Yang, Qiong, Kapur, Karen, Guessous, Idris, Zuber, Annie Mercier, Köttgen, Anna, Stoudmann, Candice, Teumer, Alexander, Kutalik, Zoltán, Mangino, Massimo, Dehghan, Abbas, Zhang, Weihua, Eiriksdottir, Gudny, Li, Guo, Tanaka, Toshiko, Portas, Laura, Lopez, Lorna M., Hayward, Caroline, Lohman, Kurt, Matsuda, Koichi, Padmanabhan, Sandosh, Firsov, Dmitri, Sorice, Rossella, Ulivi, Sheila, Brockhaus, A. Catharina, Kleber, Marcus E., Mahajan, Anubha, Ernst, Florian D., Gudnason, Vilmundur, Launer, Lenore J., Mace, Aurelien, Boerwinckle, Eric, Arking, Dan E., Tanikawa, Chizu, Nakamura, Yusuke, Brown, Morris J., Gaspoz, Jean-Michel, Theler, Jean-Marc, Siscovick, David S., Psaty, Bruce M., Bergmann, Sven, Vollenweider, Peter, Vitart, Veronique, Wright, Alan F., Zemunik, Tatijana, Boban, Mladen, Kolcic, Ivana, Navarro, Pau, Brown, Edward M., Estrada, Karol, Ding, Jingzhong, Harris, Tamara B., Bandinelli, Stefania, Hernandez, Dena, Singleton, Andrew B., Girotto, Giorgia, Ruggiero, Daniela, d'Adamo, Adamo Pio, Robino, Antonietta, Meitinger, Thomas, Meisinger, Christa, Davies, Gail, Starr, John M., Chambers, John C., Boehm, Bernhard O., Winkelmann, Bernhard R., Huang, Jie, Murgia, Federico, Wild, Sarah H., Campbell, Harry, Morris, Andrew P., Franco, Oscar H., Hofman, Albert, Uitterlinden, Andre G., Rivadeneira, Fernando, Völker, Uwe, Hannemann, Anke, Biffar, Reiner, Hoffmann, Wolfgang, Shin, So–Youn, Lescuyer, Pierre, Henry, Hughes, Schurmann, Claudia, Munroe, Patricia B., Gasparini, Paolo, Pirastu, Nicola, Ciullo, Marina, Gieger, Christian, März, Winfried, Lind, Lars, Spector, Tim D., Smith, Albert V., Rudan, Igor, Wilson, James F., Polasek, Ozren, Deary, Ian J., Pirastu, Mario, Ferrucci, Luigi, Liu, Yongmei, Kestenbaum, Bryan, Kooner, Jaspal S., Witteman, Jacqueline C. M., Nauck, Matthias, Kao, W. H. Linda, Wallaschofski, Henri, Bonny, Olivier, Fox, Caroline S., Bochud, Murielle
Publicado 2013

Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans

por Huffman, Jennifer E., Albrecht, Eva, Teumer, Alexander, Mangino, Massimo, Kapur, Karen, Johnson, Toby, Kutalik, Zoltán, Pirastu, Nicola, Pistis, Giorgio, Lopez, Lorna M., Haller, Toomas, Salo, Perttu, Goel, Anuj, Li, Man, Tanaka, Toshiko, Dehghan, Abbas, Ruggiero, Daniela, Malerba, Giovanni, Smith, Albert V., Nolte, Ilja M., Portas, Laura, Phipps-Green, Amanda, Boteva, Lora, Navarro, Pau, Johansson, Asa, Hicks, Andrew A., Polasek, Ozren, Esko, Tõnu, Peden, John F., Harris, Sarah E., Murgia, Federico, Wild, Sarah H., Tenesa, Albert, Tin, Adrienne, Mihailov, Evelin, Grotevendt, Anne, Gislason, Gauti K., Coresh, Josef, D'Adamo, Pio, Ulivi, Sheila, Vollenweider, Peter, Waeber, Gerard, Campbell, Susan, Kolcic, Ivana, Fisher, Krista, Viigimaa, Margus, Metter, Jeffrey E., Masciullo, Corrado, Trabetti, Elisabetta, Bombieri, Cristina, Sorice, Rossella, Döring, Angela, Reischl, Eva, Strauch, Konstantin, Hofman, Albert, Uitterlinden, Andre G., Waldenberger, Melanie, Wichmann, H-Erich, Davies, Gail, Gow, Alan J., Dalbeth, Nicola, Stamp, Lisa, Smit, Johannes H., Kirin, Mirna, Nagaraja, Ramaiah, Nauck, Matthias, Schurmann, Claudia, Budde, Kathrin, Farrington, Susan M., Theodoratou, Evropi, Jula, Antti, Salomaa, Veikko, Sala, Cinzia, Hengstenberg, Christian, Burnier, Michel, Mägi, Reedik, Klopp, Norman, Kloiber, Stefan, Schipf, Sabine, Ripatti, Samuli, Cabras, Stefano, Soranzo, Nicole, Homuth, Georg, Nutile, Teresa, Munroe, Patricia B., Hastie, Nicholas, Campbell, Harry, Rudan, Igor, Cabrera, Claudia, Haley, Chris, Franco, Oscar H., Merriman, Tony R., Gudnason, Vilmundur, Pirastu, Mario, Penninx, Brenda W., Snieder, Harold, Metspalu, Andres, Ciullo, Marina, Pramstaller, Peter P., van Duijn, Cornelia M., Ferrucci, Luigi, Gambaro, Giovanni, Deary, Ian J., Dunlop, Malcolm G., Wilson, James F., Gasparini, Paolo, Gyllensten, Ulf, Spector, Tim D., Wright, Alan F., Hayward, Caroline, Watkins, Hugh, Perola, Markus, Bochud, Murielle, Kao, W. H. Linda, Caulfield, Mark, Toniolo, Daniela, Völzke, Henry, Gieger, Christian, Köttgen, Anna, Vitart, Veronique
Publicado 2015

Genome-wide meta-analysis associates HLA-DQA1/DRB1 and LPA and lifestyle factors with human longevity

por Joshi, Peter K., Pirastu, Nicola, Kentistou, Katherine A., Fischer, Krista, Hofer, Edith, Schraut, Katharina E., Clark, David W., Nutile, Teresa, Barnes, Catriona L. K., Timmers, Paul R. H. J., Shen, Xia, Gandin, Ilaria, McDaid, Aaron F., Hansen, Thomas Folkmann, Gordon, Scott D., Giulianini, Franco, Boutin, Thibaud S., Abdellaoui, Abdel, Zhao, Wei, Medina-Gomez, Carolina, Bartz, Traci M., Trompet, Stella, Lange, Leslie A., Raffield, Laura, van der Spek, Ashley, Galesloot, Tessel E., Proitsi, Petroula, Yanek, Lisa R., Bielak, Lawrence F., Payton, Antony, Murgia, Federico, Concas, Maria Pina, Biino, Ginevra, Tajuddin, Salman M., Seppälä, Ilkka, Amin, Najaf, Boerwinkle, Eric, Børglum, Anders D., Campbell, Archie, Demerath, Ellen W., Demuth, Ilja, Faul, Jessica D., Ford, Ian, Gialluisi, Alessandro, Gögele, Martin, Graff, MariaElisa, Hingorani, Aroon, Hottenga, Jouke-Jan, Hougaard, David M., Hurme, Mikko A., Ikram, M. Arfan, Jylhä, Marja, Kuh, Diana, Ligthart, Lannie, Lill, Christina M., Lindenberger, Ulman, Lumley, Thomas, Mägi, Reedik, Marques-Vidal, Pedro, Medland, Sarah E., Milani, Lili, Nagy, Reka, Ollier, William E. R., Peyser, Patricia A., Pramstaller, Peter P., Ridker, Paul M., Rivadeneira, Fernando, Ruggiero, Daniela, Saba, Yasaman, Schmidt, Reinhold, Schmidt, Helena, Slagboom, P. Eline, Smith, Blair H., Smith, Jennifer A., Sotoodehnia, Nona, Steinhagen-Thiessen, Elisabeth, van Rooij, Frank J. A., Verbeek, André L., Vermeulen, Sita H., Vollenweider, Peter, Wang, Yunpeng, Werge, Thomas, Whitfield, John B., Zonderman, Alan B., Lehtimäki, Terho, Evans, Michele K., Pirastu, Mario, Fuchsberger, Christian, Bertram, Lars, Pendleton, Neil, Kardia, Sharon L. R., Ciullo, Marina, Becker, Diane M., Wong, Andrew, Psaty, Bruce M., van Duijn, Cornelia M., Wilson, James G., Jukema, J. Wouter, Kiemeney, Lambertus, Uitterlinden, André G., Franceschini, Nora, North, Kari E., Weir, David R., Metspalu, Andres, Boomsma, Dorret I., Hayward, Caroline, Chasman, Daniel, Martin, Nicholas G., Sattar, Naveed, Campbell, Harry, Esko, Tōnu, Kutalik, Zoltán, Wilson, James F.
Publicado 2017