Results 101 to 110 of about 48,393 (270)

A geometric interpretation of the permutation $p$-value and its application in eQTL studies [PDF]

, 2010
Permutation $p$-values have been widely used to assess the significance of linkage or association in genetic studies. However, the application in large-scale studies is hindered by a heavy computational burden.
Sun, Wei, Wright, Fred A.
core   +3 more sources

Integrative genomic and spatial transcriptomic analysis elucidates the oligodendrocyte‐mediated etiology of epileptic cortical thinning

Epilepsia Open, EarlyView.
Abstract Objective Focal epilepsy is characterized by progressive cortical thinning, particularly within limbic structures; however, whether this atrophy reflects acquired seizure‐induced damage or shared genetic predisposition remains unresolved. Methods We integrated genome‐wide association study (GWAS) summary statistics from the ILAE Consortium ...
Dingyuan Zhang, Qianqian Zhang, Guangming Li, Lingting Yu, Yanling Ma, Xiaoli Hong, Yujie Kui, Shanshan Cai, Jianguang Sun, Zechao Zhu   +9 more
wiley   +1 more source

Meta-analysis of massively parallel reporter assays enables prediction of regulatory function across cell types. [PDF]

, 2019
Deciphering the potential of noncoding loci to influence gene regulation has been the subject of intense research, with important implications in understanding genetic underpinnings of human diseases.
Ahituv, Nadav, Kreimer, Anat, Yan, Zhongxia, Yosef, Nir   +3 more
core  

Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure [PDF]

, 2019
Heart failure is a leading cause of mortality, yet our understanding of the genetic interactions underlying this disease remains incomplete. Here, we harvest 1352 healthy and failing human hearts directly from transplant center operating rooms, and ...
Ashley, Euan A., Bernstein, Daniel, Brandimarto, Jeff, Cappola, Thomas, Chang, Alex C., Chin, Elizabeth T., Connolly, Andrew, Cordero, Pablo, Depaoli-Roach, Anna A., Dewey, Frederick, Erbilgin, Ayca, Glazer, Nicole, Gloudemans, Michael J., Hakonarson, Hakon, Hannenhalli, Sridhar, Huang, Yong, Li, Hongzhe, Li, Mingyao, Lusis, Aldons J., Malloy, Christine, Margulies, Kenneth B., Montgomery, Stephen B., Moravec, Christine S., Morley, Michael, Parikh, Victoria N., Pavlovic, Aleksandra, Ritter, Scott, Shang, Ching, Skreen, Jamie, Smith, Kevin S., Tang, W. H. Wilson, Waggott, Daryl, Wheeler, Matthew T., Zaleta, Kathia, Zhao, Mingming   +34 more
core   +2 more sources

ULK4 and CDKN2A polymorphisms influence the risk of developing monoclonal gammopathy of undetermined significance

International Journal of Cancer, EarlyView.
What's New? Monoclonal gammopathy of undetermined significance (MGUS) is an asymptomatic precursor to multiple myeloma, sharing substantial genetic features with overt malignancy. Given evidence implicating autophagy in myeloma risk, this study examined whether genetic variations in autophagy‐related genes influence MGUS susceptibility.
José Manuel Sánchez‐Maldonado, Angelica Macauda, Antonio José Cabrera‐Serrano, Hauke Thomsen, Murat Güler, Rob Ter Horst, Bethany van Guelpen, Pavel Vodicka, Stefano Landi, Subhayan Chattopadhyay, Pelin Ünal, Lucía Ruiz‐Durán, Delphine Casabonne, Hartmut Goldschmidt, Istemi Serin, María Carretero‐Fernández, Elena Cabezudo, Fernando Reyes‐Zurita, Aaron D. Norman, Ramón García‐Sanz, Gabriele Capurso, Per Hoffmann, Ulrika Pettersson‐Kymmer, Francisco Jiménez‐Romera, S. Vincent Rajkumar, Niels Weinhold, Ludmila Vodickova, Christian Langer, Angelika Stein, Abdulkadir Karismaz, Victor Moreno, Markus M. Nöthen, Karl‐Heinz Jöckel, Francesca Tavano, Joaquín Martínez‐López, Shaji K. Kumar, Juan Francisco Gutiérrez‐Bautista, Daniela Basso, Florentin Späth, Yolanda Benavente, Michelle A. T. Hildebrandt, Börge Schmidt, Tereza Sevcikova, Rui Manuel Vieira Reis, Yang Li, Miguel Ángel López‐Nevot, Mihai G. Netea, Daniele Campa, Alyssa Clay‐Gilmour, Susan L Slager, Kari Hemminki, Celine M Vachon, Asta Försti, Federico Canzian, Juan Sainz   +54 more
wiley   +1 more source

Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

Nature Communications, 2019
Genome-wide association studies (GWAS) have identified thousands of variants associated with complex traits, but their biological interpretation often remains unclear.
E. Porcu, S. Rüeger, Kaido Lepik, Mawussé Habibul Isabel Anand Wibowo Philip Alexis Frank Ma Agbessi Ahsan Alves Andiappan Arindrarto Awadalla , M. Agbessi, H. Ahsan, I. Alves, A. Andiappan, W. Arindrarto, P. Awadalla, A. Battle, F. Beutner, Marc Jan Bonder, D. Boomsma, M. Christiansen, A. Claringbould, Patrick Deelen, T. Esko, M. Favé, L. Franke, T. Frayling, Sina A. Gharib, G. Gibson, B. Heijmans, G. Hemani, R. Jansen, M. Kähönen, A. Kalnapenkis, S. Kasela, J. Kettunen, Yungil Kim, H. Kirsten, P. Kovacs, K. Krohn, J. Kronberg-Guzman, V. Kukushkina, Bernett Lee, T. Lehtimäki, M. Loeffler, U. Marigorta, Hailang Mei, L. Milani, G. Montgomery, M. Müller-Nurasyid, M. Nauck, M. Nivard, B. Penninx, M. Perola, N. Pervjakova, B. Pierce, J. Powell, H. Prokisch, B. Psaty, O. Raitakari, S. Ripatti, O. Rotzschke, A. Saha, Markus Scholz, K. Schramm, I. Seppälä, E. Slagboom, Coen D. A. Stehouwer, M. Stumvoll, Patrick F. Sullivan, P. A. ‛. ’t Hoen, A. Teumer, J. Thiery, L. Tong, A. Tönjes, J. van Dongen, M. van Iterson, J. van Meurs, J. Veldink, J. Verlouw, P. Visscher, U. Völker, U. Võsa, H. Westra, C. Wijmenga, H. Yaghootkar, Jian Yang, B. Zeng, Futao Zhang, Wibowo Marian Dorret I. Jan Joris Patrick Lude Bastiaan T Arindrarto Beekman Boomsma Bot Deelen Deelen Frank, W. Arindrarto, M. Beekman, D. Boomsma, J. Bot, J. Deelen, B. Heijmans, P. A. ‛. ’t Hoen, B. Hofman, J. Hottenga, A. Isaacs, M. Bonder, P. M. Jhamai, S. Kiełbasa, N. Lakenberg, R. Luijk, Hailiang Mei, M. Moed, I. Nooren, R. Pool, C. Schalkwijk, P. Slagboom, H. Suchiman, M. Swertz, E. Tigchelaar, A. Uitterlinden, L. H. van den Berg, R. van der Breggen, C. V. D. van der Kallen, F. van Dijk, C. V. van Duijn, M. van Galen, M. V. van Greevenbroek, D. van Heemst, M. van Iterson, J. V. van Rooij, P. V. van‘t Hof, E. V. van Zwet, M. Vermaat, M. Verbiest, M. Verkerk, D. Zhernakova, S. Zhernakova, F. Santoni, A. Reymond, Z. Kutalik   +128 more
semanticscholar   +1 more source

Identification of expression QTL (eQTL) of genes expressed in porcine M. longissimus dorsi and associated with meat quality traits

BMC Genomics, 2010
Background Genetic analysis of transcriptional profiles is a promising approach for identifying and dissecting the genetics of complex traits like meat performance.
Schellander Karl, Schwerin Manfred, Murani Eduard, Ponsuksili Siriluck, Wimmers Klaus   +4 more
doaj   +1 more source

eQTL Catalogue: a compendium of uniformly processed human gene expression and splicing QTLs

bioRxiv, 2020
An increasing number of gene expression quantitative trait locus (eQTL) studies have made summary statistics publicly available, which can be used to gain insight into complex human traits by downstream analyses, such as fine mapping and colocalisation ...
N. Kerimov, J. Hayhurst, Kateryna Peikova, J. Manning, P. Walter, Liis Kolberg, Marija Samoviča, M. P. Sakthivel, I. Kuzmin, S. Trevanion, Tony Burdett, S. Jupp, H. Parkinson, I. Papatheodorou, Andrew D. Yates, D. Zerbino, Kaur Alasoo   +16 more
semanticscholar   +1 more source

The importance of gene polymorphism in familial inheritance of endometriosis

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective The study aimed to investigate familial transmission patterns in women with endometriosis by generating a customized single‐nucleotide polymorphism (SNP) array. Methods Patients aged 18–45 who were diagnosed histopathologically with endometriosis were included in the study.
Hale Goksever Celik, Candan Eker, Berivan Guzelbag, Ercan Bastu, Tuba Gunel   +4 more
wiley   +1 more source

Exploring the genetics of irritable bowel syndrome: A GWA study in the general population and replication in multinational case-control cohorts [PDF]

, 2014
OBJECTIVE: IBS shows genetic predisposition, but adequately powered gene-hunting efforts have been scarce so far. We sought to identify true IBS genetic risk factors by means of genome-wide association (GWA) and independent replication studies.
Agreus, Lars, Andreasson, Anna, Assadi, Ghazaleh, Barbara, Giovanni, Barbaro, Raffaella, Bellini, Massimo, Blandizzi, Corrado, Boeckxstaens, Guy, Bresso, Francesca, Burwinkel, Barbara, Camilleri, Michael, Colucci, Rocchina Lucia, D'Amato, Mauro, Daly, Mark J., Dlugosz, Aldona, Ek, Weronica E., Gambaccini, Dario, Gazouli, Maria, Holliday, Elizabeth G., Houghton, Lesley, Karamanolis, George, Karling, Pontus, Li, Ling, Lindberg, Greger, Magnusson, Patrik, Marchi, Santino, Niesler, Beate, Ohlsson, Bodil, Papadaki, Evangelia, Pedersen, Nancy L., Rafter, Joseph, Rappold, Gudrun, Reznichenko, Anna, Ripke, Stephan, Rivera, Natalia V., Schmidt, Peter T., Simren, Magnus, Stanghellini, Vincenzo, Surowy, Harald, Talley, Nicholas J., Tornblom, Hans, Walter, Susanna, Wouters, Mira M., Zucchelli, Marco   +43 more
core   +1 more source