Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Andrew R. Hamel"'
Autor:
Jayshree Advani, Puja A. Mehta, Andrew R. Hamel, Sudeep Mehrotra, Christina Kiel, Tobias Strunz, Ximena Corso-Díaz, Madeline Kwicklis, Freekje van Asten, Rinki Ratnapriya, Emily Y. Chew, Dena G. Hernandez, Sandra R. Montezuma, Deborah A. Ferrington, Bernhard H. F. Weber, Ayellet V. Segrè, Anand Swaroop
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract DNA methylation provides a crucial epigenetic mark linking genetic variations to environmental influence. We have analyzed array-based DNA methylation profiles of 160 human retinas with co-measured RNA-seq and >8 million genetic variants, un
Externí odkaz:
https://doaj.org/article/8d47fc27aef84583ace1428d94cd4bdd
Autor:
Andrew R. Hamel, Wenjun Yan, John M. Rouhana, Aboozar Monovarfeshani, Xinyi Jiang, Puja A. Mehta, Jayshree Advani, Yuyang Luo, Qingnan Liang, Skanda Rajasundaram, Arushi Shrivastava, Katherine Duchinski, Sreekar Mantena, Jiali Wang, Tavé van Zyl, Louis R. Pasquale, Anand Swaroop, Puya Gharahkhani, Anthony P. Khawaja, Stuart MacGregor, International Glaucoma Genetics Consortium (IGGC), Rui Chen, Veronique Vitart, Joshua R. Sanes, Janey L. Wiggs, Ayellet V. Segrè
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-25 (2024)
Abstract Primary open-angle glaucoma (POAG), characterized by retinal ganglion cell death, is a leading cause of irreversible blindness worldwide. However, its molecular and cellular causes are not well understood. Elevated intraocular pressure (IOP)
Externí odkaz:
https://doaj.org/article/7f45f11f740249d881e78d06fd091c4e
Autor:
Puya Gharahkhani, Eric Jorgenson, Pirro Hysi, Anthony P. Khawaja, Sarah Pendergrass, Xikun Han, Jue Sheng Ong, Alex W. Hewitt, Ayellet V. Segrè, John M. Rouhana, Andrew R. Hamel, Robert P. Igo, Helene Choquet, Ayub Qassim, Navya S. Josyula, Jessica N. Cooke Bailey, Pieter W. M. Bonnemaijer, Adriana Iglesias, Owen M. Siggs, Terri L. Young, Veronique Vitart, Alberta A. H. J. Thiadens, Juha Karjalainen, Steffen Uebe, Ronald B. Melles, K. Saidas Nair, Robert Luben, Mark Simcoe, Nishani Amersinghe, Angela J. Cree, Rene Hohn, Alicia Poplawski, Li Jia Chen, Shi-Song Rong, Tin Aung, Eranga Nishanthie Vithana, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, and Me Research Team, Gen Tamiya, Yukihiro Shiga, Masayuki Yamamoto, Toru Nakazawa, Hannah Currant, Ewan Birney, Xin Wang, Adam Auton, Michelle K. Lupton, Nicholas G. Martin, Adeyinka Ashaye, Olusola Olawoye, Susan E. Williams, Stephen Akafo, Michele Ramsay, Kazuki Hashimoto, Yoichiro Kamatani, Masato Akiyama, Yukihide Momozawa, Paul J. Foster, Peng T. Khaw, James E. Morgan, Nicholas G. Strouthidis, Peter Kraft, Jae H. Kang, Chi Pui Pang, Francesca Pasutto, Paul Mitchell, Andrew J. Lotery, Aarno Palotie, Cornelia van Duijn, Jonathan L. Haines, Chris Hammond, Louis R. Pasquale, Caroline C. W. Klaver, Michael Hauser, Chiea Chuen Khor, David A. Mackey, Michiaki Kubo, Ching-Yu Cheng, Jamie E. Craig, Stuart MacGregor, Janey L. Wiggs
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Primary open-angle glaucoma (POAG) is highly heritable, yet not well understood from a genetic perspective. Here, the authors perform a meta-analysis of genome-wide association studies in 34,179 POAG cases, identifying 44 previously unreported risk l
Externí odkaz:
https://doaj.org/article/ea46188f0f2c4f0cae58f959caf971a2
Autor:
Alvaro N. Barbeira, Rodrigo Bonazzola, Eric R. Gamazon, Yanyu Liang, YoSon Park, Sarah Kim-Hellmuth, Gao Wang, Zhuoxun Jiang, Dan Zhou, Farhad Hormozdiari, Boxiang Liu, Abhiram Rao, Andrew R. Hamel, Milton D. Pividori, François Aguet, GTEx GWAS Working Group, Lisa Bastarache, Daniel M. Jordan, Marie Verbanck, Ron Do, GTEx Consortium, Matthew Stephens, Kristin Ardlie, Mark McCarthy, Stephen B. Montgomery, Ayellet V. Segrè, Christopher D. Brown, Tuuli Lappalainen, Xiaoquan Wen, Hae Kyung Im
Publikováno v:
Genome Biology, Vol 22, Iss 1, Pp 1-24 (2021)
Abstract The resources generated by the GTEx consortium offer unprecedented opportunities to advance our understanding of the biology of human diseases. Here, we present an in-depth examination of the phenotypic consequences of transcriptome regulati
Externí odkaz:
https://doaj.org/article/84ae6dd57bee4833929e3d4586a1d87a
Autor:
Shankara Anand, Segrè Av, Aviv Regev, John M. Rouhana, Andrew R. Hamel, Brian S. Cole, Kristin G. Ardlie, Jie Jin Wang, Gökcen Eraslan, François Aguet
SummaryECLIPSER was developed to identify pathogenic cell types and cell type-specific genes that may affect complex disease susceptibility and trait variation by integrating single cell data with known GWAS loci. ECLIPSER maps genes to GWAS loci for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1ce11098cb9611528af16bca7e8e9339
https://doi.org/10.1101/2021.11.24.469720
https://doi.org/10.1101/2021.11.24.469720
Autor:
Yuntong Wang, Mojca Skoberne, Joshua Nickerson, Margaret Manto, Gordon William Michael, Tim Harris, Anthony J Coyle, Elizabeth Gienger, Philip Bardwell, Michael Noble, Joshua M. Francis, Augustine Dunn, Andrew R Hamel, Ananda W. Goldrath, Kane Hadley, Jesse Lehman, Christophe Benoist, Marcos Wille, Graham Rockwell, Alex K. Shalek, Daniel C. Pregibon, Mark Ng, Melissa R. Durkin, Thomas Malia, Christina Tarr, Benjamin P. Roscoe, Karsten Sauer, Conor Dempsey, Del Leistritz-Edwards, Aswathy Sheen, Amir Moarefi, Violeta Rayon, Gang Liu, Joanna Swain
Effective presentation of antigens by HLA class I molecules to CD8+ T cells is required for viral elimination and generation of long-term immunological memory. In this study, we applied a single-cell, multi-omic technology to generate the first unifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::56d291c8d3daa97a32752a5f5a9b9fbd
https://doi.org/10.1101/2021.04.29.441258
https://doi.org/10.1101/2021.04.29.441258
Autor:
Deborah C. Mash, Kevin S. Smith, Lappalainen T, Jeffrey A. Thomas, Rajinder Kaul, Paul Flicek, Maghboeba Mosavel, Yuxin Zou, Barbara E. Stranger, Brandon L. Pierce, Yanyu Liang, Andrew R. Hamel, Lihua Jiang, Marcus Hunter, Jimmie B. Vaught, Hae Kyung Im, John M. Rouhana, François Aguet, Ferran Reverter, Jason Bridge, Farzana Jasmine, Scott D. Jewell, William F. Leinweber, Gad Getz, Jonah Einson, Kevin Myer, SE Castel, Barbara E. Engelhardt, Stephen B. Montgomery, Brunilda Balliu, Gary Walters, Helen M. Moore, Daniel Nachun, Zerbino, Lori E. Brigham, Gao Wang, Farhad Hormozdiari, Pejman Mohammadi, Kasper D. Hansen, Nicole A. Teran, Fred A. Wright, Bryan Gillard, Sarah Kim-Hellmuth, CC Powell, Susan E. Koester, Wucher, Aaron Graubert, Duyen T. Nguyen, Shin Lin, Mike Moser, John A. Stamatoyannopoulos, Liqun Qi, Princy Parsana, Peter Hickey, Latarsha J. Carithers, Saboor Shad, Eric R. Gamazon, Jennifer A. Doherty, Stephen J. Trevanion, Kane Hadley, Kate R. Rosenbloom, Anita H. Undale, Robert E. Handsaker, Debra Bradbury, Shankara Anand, Meng Wang, David E. Tabor, Karna Robinson, S. Gabriel, Esti Yeger-Lotem, Kimberly Ramsey, Mary Barcus, Daniel G. MacArthur, Yuan He, Nancy Roche, Alvaro N. Barbeira, Ayellet V. Segrè, Dan Sheppard, Souvik Das, AR Little, Nathan S. Abell, Xiaoquan Wen, Elise D. Flynn, Nicole M. Ferraro, Hua Tang, Jared L. Nedzel, Jessica Wheeler, Abhi Rao, Meier, Thomas Juettemann, Sandra Linder, Bruce A. Roe, Daniel J. Cotter, David A. Davis, Christopher Johns, Lin Chen, Seva Kashin, Muhammad G. Kibriya, Ana Viñuela, Ellen Todres, Ashis Saha, Matthew Stephens, Chiara Sabatti, Manolis Kellis, Laura A. Siminoff, Phillip Branton, Xiao Li, Michael Snyder, Kathryn Demanelis, Gen Li, Barbara A. Foster, Leslie H. Sobin, Simona Volpi, Magali Ruffier, Christopher D. Brown, Ping Guan, Benjamin J. Strober, Alexis Battle, Michael J. Gloudemans, Silva Kasela, Manuel Muñoz-Aguirre, Ellen Karasik, OM deGoede, Roderic Guigó, Michael Washington, Alisa McDonald, Andrew A. Brown, Meritxell Oliva, Kieron Taylor, Nancy J. Cox, Daniel C. Rohrer, Paul J. Hoffman, Gene Kopen, Qin Li, Andrew D Skol, Rodrigo Bonazzola, Tiffany Eulalio, Mark H. Johnson, Laure Fresard, Lindsay F. Rizzardi, Abhiram Rao, T Krubit, W. J. Kent, Alan Kwong, Anna M. Smith, Pedro G. Ferreira, HM Gardiner, Andrew P. Feinberg, Rick Hasz, Lei Hou, Marta Melé, Andrew B. Nobel, Katherine H. Huang, Laura Barker, Maximilian Haeussler, Kristin G. Ardlie, Concepcion R. Nierras, Christopher Lee, Joshua M. Akey, Eskin E, Jeffrey McLean, Donald F. Conrad, Jin Billy Li, YoSon Park, Serghei Mangul, Emmanouil T. Dermitzakis, Brian Jo, D Garrido-Martin
The Genotype-Tissue Expression (GTEx) project dissects how genetic variation affects gene expression and splicing. Some human genetic variants affect the amount of RNA produced and the splicing of gene transcripts, crucial steps in development and ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::750f7e68291b1839a3351deae498ad1b
http://hdl.handle.net/2445/195117
http://hdl.handle.net/2445/195117
Autor:
Tuuli Lappalainen, Andrew D. Skol, Valentin Wucher, Ekaterina A. Khramtsova, Diego Garrido-Martín, Stephane E. Castel, Stephen B. Montgomery, Emmanouil T. Dermitzakis, Anthony Payne, Barbara E. Stranger, José Manuel Soria, Ferran Reverter, Hae Kyung Im, Daniel J. Cotter, Rodrigo Bonazzola, Brunilda Balliu, Brandon L. Pierce, Eric R. Gamazon, Alexis Battle, Pejman Mohammadi, Andrew R Hamel, Roderic Guigó, Ariel D. H. Gewirtz, Manuel Muñoz-Aguirre, Kristin G. Ardlie, Patrick Evans, Alvaro N. Barbeira, Yuxin Zou, Andrew A. Brown, Silva Kasela, Matthew Stephens, Barbara E. Engelhardt, Sarah Kim-Hellmuth, Angel Martinez-Perez, Ana Viñuela, Meritxell Oliva, Eleazar Eskin, Ayellet V. Segrè, Princy Parsana, François Aguet
Publikováno v:
SCIENCE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Science
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Science
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
Many complex human phenotypes exhibit sex-differentiated characteristics. However, the molecular mechanisms underlying these differences remain largely unknown. We generated a catalog of sex differences in gene expression and in the genetic regulatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::592425de573493e514156a87630f7b27
http://hdl.handle.net/2445/197187
http://hdl.handle.net/2445/197187
Autor:
Christopher D. Brown, Gao Wang, Lisa Bastarache, Boxiang Liu, Tuuli Lappalainen, Marie Verbanck, Xiaoquan Wen, Zhuoxun Jiang, Farhad Hormozdiari, Eric R. Gamazon, Mark I. McCarthy, Sarah Kim-Hellmuth, Rodrigo Bonazzola, Milton Pividori, Alvaro N. Barbeira, Kristin G. Ardlie, Abhiram Rao, Daniel M. Jordan, Yanyu Liang, Andrew R. Hamel, Dan Zhou, YoSon Park, Stephen B. Montgomery, Matthew Stephens, Hae Kyung Im, François Aguet, Ron Do, Ayellet V. Segrè
Publikováno v:
Genome Biology, Vol 22, Iss 1, Pp 1-24 (2021)
Genome Biology
Genome Biology
The resources generated by the GTEx consortium offer unprecedented opportunities to advance our understanding of the biology of human diseases. Here, we present an in-depth examination of the phenotypic consequences of transcriptome regulation and a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ab87a59c872fb00365f29109c223881
https://doi.org/10.1101/814350
https://doi.org/10.1101/814350
Autor:
Olivia M. de Goede, Daniel C. Nachun, Nicole M. Ferraro, Michael J. Gloudemans, Abhiram S. Rao, Craig Smail, Tiffany Y. Eulalio, François Aguet, Bernard Ng, Jishu Xu, Alvaro N. Barbeira, Stephane E. Castel, Sarah Kim-Hellmuth, YoSon Park, Alexandra J. Scott, Benjamin J. Strober, Christopher D. Brown, Xiaoquan Wen, Ira M. Hall, Alexis Battle, Tuuli Lappalainen, Hae Kyung Im, Kristin G. Ardlie, Sara Mostafavi, Thomas Quertermous, Karla Kirkegaard, Stephen B. Montgomery, Shankara Anand, Stacey Gabriel, Gad A. Getz, Aaron Graubert, Kane Hadley, Robert E. Handsaker, Katherine H. Huang, Xiao Li, Daniel G. MacArthur, Samuel R. Meier, Jared L. Nedzel, Duyen T. Nguyen, Ayellet V. Segrè, Ellen Todres, Brunilda Balliu, Rodrigo Bonazzola, Andrew Brown, Donald F. Conrad, Daniel J. Cotter, Nancy Cox, Sayantan Das, Emmanouil T. Dermitzakis, Jonah Einson, Barbara E. Engelhardt, Eleazar Eskin, Elise D. Flynn, Laure Fresard, Eric R. Gamazon, Diego Garrido-Martín, Nicole R. Gay, Roderic Guigó, Andrew R. Hamel, Yuan He, Paul J. Hoffman, Farhad Hormozdiari, Lei Hou, Brian Jo, Silva Kasela, Seva Kashin, Manolis Kellis, Alan Kwong, Xin Li, Yanyu Liang, Serghei Mangul, Pejman Mohammadi, Manuel Muñoz-Aguirre, Andrew B. Nobel, Meritxell Oliva, Yongjin Park, Princy Parsana, Ferran Reverter, John M. Rouhana, Chiara Sabatti, Ashis Saha, Matthew Stephens, Barbara E. Stranger, Nicole A. Teran, Ana Viñuela, Gao Wang, Fred Wright, Valentin Wucher, Yuxin Zou, Pedro G. Ferreira, Gen Li, Marta Melé, Esti Yeger-Lotem, Debra Bradbury, Tanya Krubit, Jeffrey A. McLean, Liqun Qi, Karna Robinson, Nancy V. Roche, Anna M. Smith, David E. Tabor, Anita Undale, Jason Bridge, Lori E. Brigham, Barbara A. Foster, Bryan M. Gillard, Richard Hasz, Marcus Hunter, Christopher Johns, Mark Johnson, Ellen Karasik, Gene Kopen, William F. Leinweber, Alisa McDonald, Michael T. Moser, Kevin Myer, Kimberley D. Ramsey, Brian Roe, Saboor Shad, Jeffrey A. Thomas, Gary Walters, Michael Washington, Joseph Wheeler, Scott D. Jewell, Daniel C. Rohrer, Dana R. Valley, David A. Davis, Deborah C. Mash, Mary E. Barcus, Philip A. Branton, Leslie Sobin, Laura K. Barker, Heather M. Gardiner, Maghboeba Mosavel, Laura A. Siminoff, Paul Flicek, Maximilian Haeussler, Thomas Juettemann, W. James Kent, Christopher M. Lee, Conner C. Powell, Kate R. Rosenbloom, Magali Ruffier, Dan Sheppard, Kieron Taylor, Stephen J. Trevanion, Daniel R. Zerbino, Nathan S. Abell, Joshua Akey, Lin Chen, Kathryn Demanelis, Jennifer A. Doherty, Andrew P. Feinberg, Kasper D. Hansen, Peter F. Hickey, Farzana Jasmine, Lihua Jiang, Rajinder Kaul, Muhammad G. Kibriya, Jin Billy Li, Qin Li, Shin Lin, Sandra E. Linder, Brandon L. Pierce, Lindsay F. Rizzardi, Andrew D. Skol, Kevin S. Smith, Michael Snyder, John Stamatoyannopoulos, Hua Tang, Meng Wang, Latarsha J. Carithers, Ping Guan, Susan E. Koester, A. Roger Little, Helen M. Moore, Concepcion R. Nierras, Abhi K. Rao, Jimmie B. Vaught, Simona Volpi
Publikováno v:
Cell
Long non-coding RNA (lncRNA) genes have well-established and important impacts on molecular and cellular functions. However, among the thousands of lncRNA genes, it is still a major challenge to identify the subset with disease or trait relevance. To