PAIRUP-MS: Pathway analysis and imputation to relate unknowns in profiles from mass spectrometry-based metabolite data.

Autor: Yu-Han H Hsu, Claire Churchhouse, Tune H Pers, Josep M Mercader, Andres Metspalu, Krista Fischer, Kristen Fortney, Eric K Morgen, Clicerio Gonzalez, Maria E Gonzalez, Tonu Esko, Joel N Hirschhorn

Publikováno v: PLoS Computational Biology, Vol 15, Iss 1, p e1006734 (2019)

Metabolomics is a powerful approach for discovering biomarkers and for characterizing the biochemical consequences of genetic variation. While untargeted metabolite profiling can measure thousands of signals in a single experiment, many biologically

Externí odkaz: https://doaj.org/article/6cc9432e396f4403b8372db4ba795439

Algorithms for the identification of prevalent diabetes in the All of Us Research Program validated using polygenic scores

Autor: Lukasz Szczerbinski, Ravi Mandla, Philip Schroeder, Bianca C. Porneala, Josephine H. Li, Jose C. Florez, Josep M. Mercader, Miriam S. Udler, Alisa K. Manning

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)

Abstract The All of Us Research Program (AoU) is an initiative designed to gather a comprehensive and diverse dataset from at least one million individuals across the USA. This longitudinal cohort study aims to advance research by providing a rich re

Externí odkaz: https://doaj.org/article/b5ae27a0a56d41f4a622a83acc94ad71

Polygenic scores for longitudinal prediction of incident type 2 diabetes in an ancestrally and medically diverse primary care physician network: a patient cohort study

Autor: Ravi Mandla, Philip Schroeder, Bianca Porneala, Jose C. Florez, James B. Meigs, Josep M. Mercader, Aaron Leong

Publikováno v: Genome Medicine, Vol 16, Iss 1, Pp 1-13 (2024)

Abstract Background The clinical utility of genetic information for type 2 diabetes (T2D) prediction with polygenic scores (PGS) in ancestrally diverse, real-world US healthcare systems is unclear, especially for those at low clinical phenotypic risk

Externí odkaz: https://doaj.org/article/39712f6c0dd2442c9dd63aedac4429c1

Identification of novel type 2 diabetes candidate genes involved in the crosstalk between the mitochondrial and the insulin signaling systems.

Autor: Josep M Mercader, Montserrat Puiggros, Ayellet V Segrè, Evarist Planet, Eleonora Sorianello, David Sebastian, Sergio Rodriguez-Cuenca, Vicent Ribas, Sílvia Bonàs-Guarch, Sorin Draghici, Chenjing Yang, Sílvia Mora, Antoni Vidal-Puig, Josée Dupuis, DIAGRAM Consortium, Jose C Florez, MITIN Consortium, Antonio Zorzano, David Torrents

Publikováno v: PLoS Genetics, Vol 8, Iss 12, p e1003046 (2012)

Type 2 Diabetes (T2D) is a highly prevalent chronic metabolic disease with strong co-morbidity with obesity and cardiovascular diseases. There is growing evidence supporting the notion that a crosstalk between mitochondria and the insulin signaling c

Externí odkaz: https://doaj.org/article/4e81f84e7ace4752a9d21bbe1e8592d7

The Type 2 Diabetes Knowledge Portal: an open access genetic resource dedicated to type 2 diabetes and related traits

Autor: Maria C. Costanzo, Marcin von Grotthuss, Jeffrey Massung, Dongkeun Jang, Lizz Caulkins, Ryan Koesterer, Clint Gilbert, Ryan P. Welch, Parul Kudtarkar, Quy Hoang, Andrew P. Boughton, Preeti Singh, Ying Sun, Marc Duby, Annie Moriondo, Trang Nguyen, Patrick Smadbeck, Benjamin R. Alexander, MacKenzie Brandes, Mary Carmichael, Peter Dornbos, Todd Green, Kenneth C. Huellas-Bruskiewicz, Yue Ji, Alexandria Kluge, Aoife C. McMahon, Josep M. Mercader, Oliver Ruebenacker, Sebanti Sengupta, Dylan Spalding, Daniel Taliun, Philip Smith, Melissa K. Thomas, Beena Akolkar, M. Julia Brosnan, Andriy Cherkas, Audrey Y. Chu, Eric B. Fauman, Caroline S. Fox, Tania Nayak Kamphaus, Melissa R. Miller, Lynette Nguyen, Afshin Parsa, Dermot F. Reilly, Hartmut Ruetten, David Wholley, Norann A. Zaghloul, Gonçalo R. Abecasis, David Altshuler, Thomas M. Keane, Mark I. McCarthy, Kyle J. Gaulton, Jose C. Florez, Michael Boehnke, Noël P. Burtt, Jason Flannick, Gonçalo Abecasis, Nicholette D. Allred, Jennifer E. Below, Richard Bergman, Joline W.J. Beulens, John Blangero, Krister Bokvist, Erwin Bottinger, Donald Bowden, Christopher Brown, Kenneth Bruskiewicz, Inês Cebola, John Chambers, Yii-Der Ida Chen, Christopher Clark, Melina Claussnitzer, Nancy J. Cox, Marcel den Hoed, Duc Dong, Ravindranath Duggirala, Josée Dupuis, Petra J.M. Elders, Jesse M. Engreitz, Eric Fauman, Jorge Ferrer, Paul Flicek, Matthew Flickinger, Timothy M. Frayling, Kelly A. Frazer, Anna L. Gloyn, Craig L. Hanis, Robert Hanson, Andrew T. Hattersley, Hae Kyung Im, Sidra Iqbal, Suzanne B.R. Jacobs, Dong-Keun Jang, Tad Jordan, Tania Kamphaus, Fredrik Karpe, Seung K. Kim, Kasper Lage, Leslie A. Lange, Mitchell Lazar, Donna Lehman, Ching-Ti Liu, Ruth J.F. Loos, Ronald Ching-wan Ma, Patrick MacDonald, Matthew T. Maurano, Gil McVean, James B. Meigs, Braxton Mitchell, Karen L. Mohlke, Samuel Morabito, Claire Morgan, Shannon Mullican, Sharvari Narendra, Maggie C.Y. Ng, Colin N.A. Palmer, Stephen C.J. Parker, Antonio Parrado, Aaron C. Pawlyk, Ewan R. Pearson, Andrew Plump, Michael Province, Thomas Quertermous, Susan Redline, Bing Ren, Stephen S. Rich, J. Brent Richards, Jerome I. Rotter, Rany M. Salem, Maike Sander, Michael Sanders, Dharambir Sanghera, Laura J. Scott, David Siedzik, Xueling Sim, Robert Sladek, Kerrin Small, Peter Stein, Heather M. Stringham, Katalin Susztak, Leen M. ’t Hart, Kent Taylor, Jennifer A. Todd, Miriam S. Udler, Benjamin Voight, Andre Wan, Kaan Yuksel

Publikováno v: 710.e6
AMP-T2D Consortium 2023, ' The Type 2 Diabetes Knowledge Portal : An open access genetic resource dedicated to type 2 diabetes and related traits ', Cell Metabolism, vol. 35, no. 4, pp. 695-710.e6 . https://doi.org/10.1016/j.cmet.2023.03.001
Cell Metab
Cell metabolism, vol 35, iss 4
Cell Metabolism, 35(4), 695-710.e6. Cell Press

Associations between human genetic variation and clinical phenotypes have become a foundation of biomedical research. Most repositories of these data seek to be disease-agnostic and therefore lack disease-focused views. The Type 2 Diabetes Knowledge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04094df70ceb068c99b961c7447fbab0
http://hdl.handle.net/10044/1/104941