Zobrazeno 1 - 10
of 114
pro vyhledávání: '"Erin N, Smith"'
Autor:
Liam Mahedy, Emma L. Anderson, Kate Tilling, Zak A. Thornton, Andrew R. Elmore, Sándor Szalma, Arthur Simen, Meredith Culp, Stephen Zicha, Brian T. Harel, George Davey Smith, Erin N. Smith, Lavinia Paternoster
Publikováno v:
Translational Psychiatry, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Cognitive decline is a major health concern and identification of genes that may serve as drug targets to slow decline is important to adequately support an aging population. Whilst genetic studies of cross-sectional cognition have been carr
Externí odkaz:
https://doaj.org/article/7c74e97413254aebba9b6708c2e881d5
Autor:
David Jakubosky, Erin N. Smith, Matteo D’Antonio, Marc Jan Bonder, William W. Young Greenwald, Agnieszka D’Antonio-Chronowska, Hiroko Matsui, i2QTL Consortium, Oliver Stegle, Stephen B. Montgomery, Christopher DeBoever, Kelly A. Frazer
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
The complexity of structural variation (SV) and short tandem repeats (STRs) makes it necessary to apply different calling and filtering strategies to sequencing datasets. Here, Jakubosky et al. report a comprehensive SV and STR callset from whole-gen
Externí odkaz:
https://doaj.org/article/318f78de837f4a16ab088e0ac0b741f4
Autor:
David Jakubosky, Matteo D’Antonio, Marc Jan Bonder, Craig Smail, Margaret K. R. Donovan, William W. Young Greenwald, Hiroko Matsui, i2QTL Consortium, Agnieszka D’Antonio-Chronowska, Oliver Stegle, Erin N. Smith, Stephen B. Montgomery, Christopher DeBoever, Kelly A. Frazer
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Genetic variation associated with gene expression changes has mostly been studied in the context of single nucleotide variants. Here, Jakubosky et al. report eQTL analysis of structural variants and short tandem repeats and find properties, such as l
Externí odkaz:
https://doaj.org/article/3ac8df01ae4c4323ad093a164d82fdc4
Autor:
Agnieszka D'Antonio-Chronowska, Margaret K.R. Donovan, William W. Young Greenwald, Jennifer Phuong Nguyen, Kyohei Fujita, Sherin Hashem, Hiroko Matsui, Francesca Soncin, Mana Parast, Michelle C. Ward, Florence Coulet, Erin N. Smith, Eric Adler, Matteo D'Antonio, Kelly A. Frazer
Publikováno v:
Stem Cell Reports, Vol 13, Iss 5, Pp 924-938 (2019)
Summary: Despite the importance of understanding how variability across induced pluripotent stem cell (iPSC) lines due to non-genetic factors (clone and passage) influences their differentiation outcome, large-scale studies capable of addressing this
Externí odkaz:
https://doaj.org/article/8f78689b27d04687908913946f7fa60e
Autor:
Erin N. Smith, Agnieszka D'Antonio-Chronowska, William W. Greenwald, Victor Borja, Lana R. Aguiar, Robert Pogue, Hiroko Matsui, Paola Benaglio, Shyamanga Borooah, Matteo D'Antonio, Radha Ayyagari, Kelly A. Frazer
Publikováno v:
Stem Cell Reports, Vol 12, Iss 6, Pp 1342-1353 (2019)
Summary: We evaluate whether human induced pluripotent stem cell-derived retinal pigment epithelium (iPSC-RPE) cells can be used to prioritize and functionally characterize causal variants at age-related macular degeneration (AMD) risk loci. We gener
Externí odkaz:
https://doaj.org/article/9c34a3ce8fe74c1c8d965a279b15f664
Autor:
William W. Greenwald, He Li, Paola Benaglio, David Jakubosky, Hiroko Matsui, Anthony Schmitt, Siddarth Selvaraj, Matteo D’Antonio, Agnieszka D’Antonio-Chronowska, Erin N. Smith, Kelly A. Frazer
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)
It is currently unclear how quantitative changes in chromatin loop propensity contribute to differential gene regulation. Here, the authors use phased Hi-C, RNA-seq, and ChIP-seq to show that subtle changes in loop propensity associate with different
Externí odkaz:
https://doaj.org/article/f72b1213a233451aa67b2d6cb89c60be
Autor:
Benedikte Paulsen, Hanne Skille, Erin N. Smith, Kristian Hveem, Maiken E. Gabrielsen, Sigrid K. Brækkan, Frits R. Rosendaal, Kelly A. Frazer, Olga V. Gran, John-Bjarne Hansen
Publikováno v:
Haematologica, Vol 105, Iss 7 (2020)
Venous thromboembolism (VTE) is a frequent complication in patients with cancer. Homozygous carriers of the fibrinogen gamma gene (FGG) rs2066865 have a moderately increased risk of VTE, but the effect of the FGG variant in cancer is unknown. We aime
Externí odkaz:
https://doaj.org/article/cb69c9b32a6646bb811a589734256ea7
Publikováno v:
BMC Bioinformatics, Vol 18, Iss 1, Pp 1-6 (2017)
Abstract Background Genomic interaction studies use next-generation sequencing (NGS) to examine the interactions between two loci on the genome, with subsequent bioinformatics analyses typically including annotation, intersection, and merging of data
Externí odkaz:
https://doaj.org/article/2875d9d2c1e943b89db17a505d6b784f
Autor:
Athanasia D. Panopoulos, Matteo D'Antonio, Paola Benaglio, Roy Williams, Sherin I. Hashem, Bernhard M. Schuldt, Christopher DeBoever, Angelo D. Arias, Melvin Garcia, Bradley C. Nelson, Olivier Harismendy, David A. Jakubosky, Margaret K.R. Donovan, William W. Greenwald, KathyJean Farnam, Megan Cook, Victor Borja, Carl A. Miller, Jonathan D. Grinstein, Frauke Drees, Jonathan Okubo, Kenneth E. Diffenderfer, Yuriko Hishida, Veronica Modesto, Carl T. Dargitz, Rachel Feiring, Chang Zhao, Aitor Aguirre, Thomas J. McGarry, Hiroko Matsui, He Li, Joaquin Reyna, Fangwen Rao, Daniel T. O'Connor, Gene W. Yeo, Sylvia M. Evans, Neil C. Chi, Kristen Jepsen, Naoki Nariai, Franz-Josef Müller, Lawrence S.B. Goldstein, Juan Carlos Izpisua Belmonte, Eric Adler, Jeanne F. Loring, W. Travis Berggren, Agnieszka D'Antonio-Chronowska, Erin N. Smith, Kelly A. Frazer
Publikováno v:
Stem Cell Reports, Vol 8, Iss 4, Pp 1086-1100 (2017)
Summary: Large-scale collections of induced pluripotent stem cells (iPSCs) could serve as powerful model systems for examining how genetic variation affects biology and disease. Here we describe the iPSCORE resource: a collection of systematically de
Externí odkaz:
https://doaj.org/article/c8ae55149e0944118b67d5bad7b79cfa
Autor:
Shan Yu, Matthew Ericson, Andrea Fanjul, Derek M. Erion, Maria Paraskevopoulou, Erin N. Smith, Banumathi Cole, Ryan Feaver, Corine Holub, Narender Gavva, Shane R. Horman, Jie Huang
Publikováno v:
ACS Chemical Biology. 17:918-929
Liver fibrosis progression in chronic liver disease leads to cirrhosis, liver failure, or hepatocellular carcinoma and often ends in liver transplantation. Even with an increased understanding of liver fibrogenesis and many attempts to generate thera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74b2f5e9de8fe7b0e417d602e2240b3a
https://doi.org/10.1021/acschembio.2c00006
https://doi.org/10.1021/acschembio.2c00006