Zobrazeno 1 - 10
of 202
pro vyhledávání: '"Michael P. Epstein"'
Autor:
Randy L. Parrish, Aron S. Buchman, Shinya Tasaki, Yanling Wang, Denis Avey, Jishu Xu, Philip L. De Jager, David A. Bennett, Michael P. Epstein, Jingjing Yang
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-16 (2024)
Abstract Multiple reference panels of a given tissue or multiple tissues often exist, and multiple regression methods could be used for training gene expression imputation models for transcriptome-wide association studies (TWAS). To leverage expressi
Externí odkaz:
https://doaj.org/article/e1438fafdf334bde867c5aecd9114757
Autor:
Andrew J. Bass, Shijia Bian, Aliza P. Wingo, Thomas S. Wingo, David J. Cutler, Michael P. Epstein
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-17 (2024)
Abstract The "missing" heritability of complex traits may be partly explained by genetic variants interacting with other genes or environments that are difficult to specify, observe, and detect. We propose a new kernel-based method called Latent Inte
Externí odkaz:
https://doaj.org/article/31a9df1724b94cce8752847fba481226
Autor:
Junyu Chen, Evan Gatev, Todd Everson, Karen N. Conneely, Nastassja Koen, Michael P. Epstein, Michael S. Kobor, Heather J. Zar, Dan J. Stein, Anke Hüls
Publikováno v:
Epigenetics, Vol 18, Iss 1 (2023)
Recent efforts have focused on developing methylation risk scores (MRS), a weighted sum of the individual’s DNA methylation (DNAm) values of pre-selected CpG sites. Most of the current MRS approaches that utilize Epigenome-wide association studies
Externí odkaz:
https://doaj.org/article/4babd77b39d246af9c962658b9fdc9ec
Autor:
Qile Dai, Geyu Zhou, Hongyu Zhao, Urmo Võsa, Lude Franke, Alexis Battle, Alexander Teumer, Terho Lehtimäki, Olli T. Raitakari, Tõnu Esko, eQTLGen Consortium, Michael P. Epstein, Jingjing Yang
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Here, the authors present a TWAS framework OTTERS that adapts multiple polygenic risk score methods to estimate eQTL weights from summary-level eQTL data. Both simulation and real studies show OTTERS is powerful across a wide range of genetic archite
Externí odkaz:
https://doaj.org/article/38925c489fec43688f03dc96160bdc0f
Autor:
Kelsey Robinson, Trenell J. Mosley, Kenneth S. Rivera-González, Christopher R. Jabbarpour, Sarah W. Curtis, Wasiu Lanre Adeyemo, Terri H. Beaty, Azeez Butali, Carmen J. Buxó, David J. Cutler, Michael P. Epstein, Lord J.J. Gowans, Jacqueline T. Hecht, Jeffrey C. Murray, Gary M. Shaw, Lina Moreno Uribe, Seth M. Weinberg, Harrison Brand, Mary L. Marazita, Robert J. Lipinski, Elizabeth J. Leslie
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100234- (2023)
Summary: Cleft palate (CP) is one of the most common craniofacial birth defects; however, there are relatively few established genetic risk factors associated with its occurrence despite high heritability. Historically, CP has been studied as a singl
Externí odkaz:
https://doaj.org/article/d701a794d6d64abda81ebac6e8be9898
Autor:
Rebecca M. Pollak, Ryan H. Purcell, Timothy P. Rutkowski, Tamika Malone, Kimberly J. Pachura, Gary J. Bassell, Michael P. Epstein, Paul A. Dawson, Matthew R. Smith, Dean P. Jones, Michael E. Zwick, Stephen T. Warren, Tamara Caspary, David Weinshenker, Jennifer G. Mulle
Publikováno v:
Translational Psychiatry, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract The 1.6 Mb 3q29 deletion is associated with developmental and psychiatric phenotypes, including a 40-fold increased risk for schizophrenia. Reduced birth weight and a high prevalence of feeding disorders in patients suggest underlying metabo
Externí odkaz:
https://doaj.org/article/45761d0ab5754763bcdb5445206f521b
Autor:
Emily Drzymalla, Nicole Gladish, Nastassja Koen, Michael P. Epstein, Michael S. Kobor, Heather J. Zar, Dan J. Stein, Anke Hüls
Publikováno v:
Translational Psychiatry, Vol 11, Iss 1, Pp 1-8 (2021)
Abstract Around 15–65% of women globally experience depression during pregnancy, prevalence being particularly high in low- and middle-income countries. Prenatal depression has been associated with adverse birth and child development outcomes. DNA
Externí odkaz:
https://doaj.org/article/05d0258854944a77ae96d617c5104b5e
Autor:
Karen L. Oliver, Colin A. Ellis, Ingrid E. Scheffer, Shiva Ganesan, Costin Leu, Lynette G. Sadleir, Erin L. Heinzen, Heather C. Mefford, Andrew J. Bass, Sarah W. Curtis, Rebekah V. Harris, David C. Whiteman, Ingo Helbig, Ruth Ottman, Michael P. Epstein, Melanie Bahlo, Samuel F. Berkovic
Publikováno v:
EBioMedicine, Vol 81, Iss , Pp 104079- (2022)
Summary: Background: The epilepsies are highly heritable conditions that commonly follow complex inheritance. While monogenic causes have been identified in rare familial epilepsies, most familial epilepsies remain unsolved. We aimed to determine (1)
Externí odkaz:
https://doaj.org/article/e6ab89744c3c49e6bb0fbb1187c051fd
Publikováno v:
HGG Advances, Vol 3, Iss 1, Pp 100068- (2022)
Summary: Standard transcriptome-wide association study (TWAS) methods first train gene expression prediction models using reference transcriptomic data and then test the association between the predicted genetically regulated gene expression and phen
Externí odkaz:
https://doaj.org/article/0991e4914aff475099fea18687efd5c4
Autor:
Sarah W. Curtis, Daniel Chang, Myoung Keun Lee, John R. Shaffer, Karlijne Indencleef, Michael P. Epstein, David J. Cutler, Jeffrey C. Murray, Eleanor Feingold, Terri H. Beaty, Peter Claes, Seth M. Weinberg, Mary L. Marazita, Jenna C. Carlson, Elizabeth J. Leslie
Publikováno v:
HGG Advances, Vol 2, Iss 2, Pp 100025- (2021)
Summary: Nonsyndromic orofacial clefts (OFCs) are a common birth defect and are phenotypically heterogenous in the structure affected by the cleft—cleft lip (CL) and cleft lip and palate (CLP)—as well as other features, such as the severity of th
Externí odkaz:
https://doaj.org/article/a322c03288d34c9f85b88000b3e323a0