Elucidating the genetic architecture of DNA methylation to identify promising molecular mechanisms of disease

Autor: Jiantao Ma, Roby Joehanes, Chunyu Liu, Amena Keshawarz, Shih-Jen Hwang, Helena Bui, Brandon Tejada, Meera Sooda, Peter J. Munson, Cumhur Y. Demirkale, Paul Courchesne, Nancy L. Heard-Costa, Achilleas N. Pitsillides, Mike Feolo, Nataliya Sharopova, Ramachandran S. Vasan, Tianxiao Huan, Daniel Levy

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)

Abstract DNA methylation commonly occurs at cytosine-phosphate-guanine sites (CpGs) that can serve as biomarkers for many diseases. We analyzed whole genome sequencing data to identify DNA methylation quantitative trait loci (mQTLs) in 4126 Framingha

Externí odkaz: https://doaj.org/article/92838d3a373842e1a75e6a556cd68d2d

[P3–090]: THE ALZHEIMER's DISEASE SEQUENCING PROJECT (ADSP) DATA UPDATE 2017

Autor: Rebecca Cweibel, Elizabeth L. Appelbaum, John J. Farrell, Robert S. Fulton, Otto Valladares, Sudha Seshadri, Eric Boerwinkle, Laura B. Cantwell, Tatiana Foroud, Adam C. Naj, Seung Hoan Choi, Namrata Gupta, Liming Qu, Jason Waligorski, Mike Feolo, Gerard D. Schellenberg, Kara L. Hamilton-Nelson, Yuk Yee Leung, Amanda B. Kuzma, Anita L. DeStefano, Han-Jen Lin, Adam Stine, Dolly Reyes-Dumeyer, William J Salerno, Donna M. Muzny, Joshua C. Bis, Li-San Wang, Kelley Faber

Publikováno v: Alzheimer's & Dementia. 13

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::05a4c51e233056226456ca53a5f29338
https://doi.org/10.1016/j.jalz.2017.06.1300

Rapid evaluation of phenotypes, SNPs and results through the dbGaP CHARGE Summary Results site

Autor: Anne Sturcke, Christopher J. O'Donnell, Zeng Y Wang, Lora Ziyabari, Stephen S. Rich, Bruce M. Psaty, Kenneth Rice, Mike Feolo, Joshua C. Bis

Publikováno v: Nature Genetics. 48:702-703

Rapid evaluation of phenotypes, SNPs and results through the dbGaP CHARGE Summary Results site

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ce06de69c8a46b851181fbc7cd01a3c6
https://doi.org/10.1038/ng.3582

The Genotype-Tissue Expression (GTEx) project

Autor: Mark S. Guyer, Mark I. McCarthy, Assya Abdallah, Bree Berghuis, Fernando U. Garcia, Manolis Kellis, Robin Burges, Karna Robinson, Jeffery P. Struewing, Daphne Koller, John T. Lonsdale, Leslie Derr, Roger Little, Bryan Gillard, Edmund Lo, Penelope Williams, Sara Mostafavi, Deborah C. Mash, Gary Walters, Johnelle Fleming, Alexander Thomson, David S. DeLuca, Norma Diaz-Mayoral, Timothée Flutre, Kevin Groch, MacArthur Daniel MacArthur, Zhidong Tu, Jean Monlong, Eric R. Gamazon, Steve Buia, Gary F. Temple, Susan E. Koester, Manual Rivas, Matthew Stevens, Saboor Shad, Wendy Winckler, Patrick Bender, Charles Shive, Harold Magazine, Ellen Gelfand, Helen F. Moore, Mike Moser, Nancy Young, Dan Maxim, Ivan Rusyn, Nataliya Sharopova, Andrew B. Nobel, Anuar Konkashbaev, Richard Hasz, David Tabor, Thomas R. Insel, Leslie H. Sobin, Jun Liu, Eric D. Green, Deborah Colantuoni, Xiaoquan Wen, Kenyon Erickson, Mike Feolo, Mike Salvatore, George B. Grant, Kim Valentino, Eddie Cortadillo, Yvonne Marcus, Julian Maller, Sreenath Nampally, Anne Sturcke, John Syron, Jimmie B. Vaught, Jun Zhu, Hae Kyung Im, Liqun Qi, Mark Cosentino, Heather M. Traino, Thomas Lehner, Jason Bridge, Carolyn C. Compton, Barbara A. Foster, Michael Sammeth, Nicole C. Lockhart, Alexis Battle, Kimberley Ramsey, Laura A. Siminoff, Gad Getz, Joanne P. Demchok, Mary Kennedy, Justin Paschal, Angela Zimmerman, Kristin Feenstra, Ellen Karasik, Laura Barker, Jonathan K. Pritchard, Elizabeth J. Thomson, Deborah Bradbury, Molly Donovan, Yin Yao, Kristin G. Ardlie, Philip Harbach, Daniel C. Rohrer, Eric Hudson, James A. Robb, Roderic Guigó, Taylor Young, Elizabeth L. Wilder, Rebecca Phillips, Nancy J. Cox, Andrey A. Shabalin, Phillip Branton, Susan L. Sullivan, James M. Anderson, Fred A. Wright, Simona Volpi, Joy T. Boyer, Cathy Ng, Emmanouil T. Dermitzakis, Tuuli Lappalainen, Margaret J. Basile, Maghboeba Mosavel, Jeffrey Thomas, Scott D. Jewell, Yan Meng, Dana Filkins, Dan L. Nicolae, Lisa Turner, Sherilyn Sawyer, Anna M. Smith, Greg E. Korzeniewski, Theresa Engel

Publikováno v: Nature Genetics
Nature Genetics, Nature Publishing Group, 2013, 45 (6), pp.580-5. ⟨10.1038/ng.2653⟩
PMC
Nature Genetics, Nature Publishing Group, 2013, 45 (6), pp.580-585. ⟨10.1038/ng.2653⟩
Recercat. Dipósit de la Recerca de Catalunya
instname
Nature Genetics 6 (45), 580-5. (2013)

Genome-wide association studies have identified thousands of loci for common diseases, but, for the majority of these, the mechanisms underlying disease susceptibility remain unknown. Most associated variants are not correlated with protein-coding ch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::632afcfb43746cae48f379040f8b2158
http://ora.ox.ac.uk/objects/uuid:0203e0cd-52b9-49d2-9f2d-17283f650831

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Autor: Yutaka Suzuki, Stephanie Rodrigues, Francis S. Collins, Agnes Baross, Jane Grimwood, Anna Sneed, Anuradha Madan, Sinnakaruppan Mathavan, Nicole Shapiro, Peggy N. Kwong, Martin Krzywinski, Chia-Lin Wei, Susan Old, Michael R. Brent, Jeff M. Stott, Jim Kent, Robert W. Blakesly, Steven J. Granite, Yaron S.N. Butterfield, Shiraki Toshiyuki, Jessica Fahey, Steven J.M. Jones, Eric D. Green, Jeffery G. Derge, Kirsten Schreiber, Todd E. Scheetz, Anup Madan, C. E. Gruber, Mark Ketteman, Sumio Sugano, Blake A. Simmons, Kathryn A. Makowski, Richard M. Myers, Michael J. Brownstein, David Haussler, Narayan K. Bhat, Minoru S.H. Ko, Thomas L. Casavant, Anca Petrescu, Eduardo Lee, Angela M. Garcia, Obi L. Griffith, David J. Lipman, Terry Furey, Peter J. Good, Koichi Kawakami, Ye Yuan, Jia Qian Wu, Keith Wetherby, Allison M. Peck, Angelique Schnerch, Piero Carninci, Robert A. Holt, Diana L. Palmquist, Amy Sanchez, Stephen L. Johnson, Maria de Fatima Bonaldo, Ursula Skalska, John Douglas Mcpherson, Michelle Whiting, Charles P. Brinkley, Alice C. Young, Elise A. Feingold, Dawood B. Dudekula, M. R. Smith, Joel A. Malek, Christa Prange, Jeremy Schmutz, Wonhee Jang, Richard A. Gibbs, Stephanie Bosak, Alex Rodriguez, Lukas Wagner, Yulan Piao, Mike Feolo, Leonie Misquitta, Donna M. Muzny, Mark S. Guyer, Tom I. Bonner, Florence Hsie, Rebekah S. Rasooly, Nancy Y. Liao, Preethi H. Gunaratne, Malachi Griffith, Troy Moore, Erin Helton, Daniela S. Gerhard, Richard C. Waterman, Ralph F. Hopkins, Kirill Rotmistrovsky, Mark Diekhans, Edwin Fuh, Greg Schuler, Carl F. Schaefer, Anne Hodgson, Gerard G. Bouffard, Sandra W. Clifton, Mark Dickson, Lynette H. Grouse, Tom Driscoll, Stephen W. Hulyk, Susan F. Greenhut, Carolyn M. Shenmen, Steven L. Klein, Duane E. Smailus, Yijun Ruan, Ted B. Usdin, Jacqueline E. Schein, Marco A. Marra, Ryan Morrin, M. Bento Soares, Steven Sherry, Russell L. Pearson, Carla Kowis, Kenneth H. Buetow

The National Institutes of Health's Mammalian Gene Collection (MGC) project was designed to generate and sequence a publicly accessible cDNA resource containing a complete open reading frame (ORF) for every human and mouse gene. The project initially

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a195c00230287a0151192e53b5ca959
https://europepmc.org/articles/PMC528928/