Zobrazeno 1 - 10
of 159
pro vyhledávání: '"Veronica J Vieland"'
Publikováno v:
PLoS ONE, Vol 18, Iss 9, p e0290336 (2023)
Next-generation sequencing has led to an explosion of genetic findings for many rare diseases. However, most of the variants identified are very rare and were also identified in small pedigrees, which creates challenges in terms of penetrance estimat
Externí odkaz:
https://doaj.org/article/2348f9b2c38e4a64896f537e35a8eb4d
Autor:
Veronica J Vieland, Sang-Cheol Seok
Publikováno v:
PLoS ONE, Vol 16, Iss 9, p e0257164 (2021)
In earlier work, we have developed and evaluated an alternative approach to the analysis of GWAS data, based on a statistic called the PPLD. More recently, motivated by a GWAS for genetic modifiers of the X-linked Mendelian disorder Duchenne Muscular
Externí odkaz:
https://doaj.org/article/00003499008840e299ffa0b2baec2e63
Publikováno v:
PLoS ONE, Vol 15, Iss 5, p e0232300 (2020)
In linear regression, a residual measures how far a subject's observation is from expectation; in survival analysis, a subject's Martingale or deviance residual is sometimes interpreted similarly. Here we consider ways in which a linear regression-li
Externí odkaz:
https://doaj.org/article/04697df9db1a4613abbb5dbcda0eeb73
Autor:
Kimberly A Walters, Yungui Huang, Marco Azaro, Kathleen Tobin, Thomas Lehner, Linda M Brzustowicz, Veronica J Vieland
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e84696 (2014)
Human geneticists are increasingly turning to study designs based on very large sample sizes to overcome difficulties in studying complex disorders. This in turn almost always requires multi-site data collection and processing of data through central
Externí odkaz:
https://doaj.org/article/dc2b954ca51b441591b375ee63ac776e
Autor:
Sayak Mukherjee, Stephanie Rigaud, Sang-Cheol Seok, Guo Fu, Agnieszka Prochenka, Michael Dworkin, Nicholas R J Gascoigne, Veronica J Vieland, Karsten Sauer, Jayajit Das
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e73937 (2013)
The inositol-phosphate messenger inositol(1,3,4,5)tetrakisphosphate (IP4) is essential for thymocyte positive selection by regulating plasma-membrane association of the protein tyrosine kinase Itk downstream of the T cell receptor (TCR). IP4 can act
Externí odkaz:
https://doaj.org/article/6d4f84af532a4166a083be6fd3b99e30
Autor:
Veronica J Vieland, Sang-Cheol Seok
Publikováno v:
Philosophy of Science. :1-14
Statistical analysis is often used to evaluate the strength of evidence for or against scientific hypotheses. Here we consider evidence measurement from the point of view of representational measurement theory, focusing in particular on the 0-points
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d66981f59dffd530f7e14ad74188f247
https://doi.org/10.1017/psa.2023.15
https://doi.org/10.1017/psa.2023.15
Next-generation sequencing has led to an explosion of genetic findings for many rare diseases. However, most of the variants identified are very rare and were identified in small pedigrees, which creates challenges in terms of penetrance estimation a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7217587d802ecad8d8dfa1cee8a6d5f6
https://doi.org/10.1101/2023.02.17.528910
https://doi.org/10.1101/2023.02.17.528910
Autor:
Veronica J. Vieland, Sang-Cheol Seok
Publikováno v:
Entropy, Vol 17, Iss 8, Pp 5333-5352 (2015)
Statistical modeling is often used to measure the strength of evidence for or against hypotheses about given data. We have previously proposed an information-dynamic framework in support of a properly calibrated measurement scale for statistical evid
Externí odkaz:
https://doaj.org/article/88e0404130fd45c3b93e5e327c694d6b
Autor:
Roxane Alles, Veronica J. Vieland, Robert B. Weiss, Megan A. Waldrop, John Burian, Paul T. Martin, Kevin M. Flanigan, Sang-Cheol Seok, Diane M. Dunn, Melissa Moore-Clingenpeel, Lindsay N. Alfano, Tabatha R. Simmons
The major determinant of disease severity in patients with severe Duchenne muscular dystrophy (DMD) or milder Becker muscular dystrophy (BMD) is whether their dystrophin gene (DMD) mutation disrupts the mRNA reading frame or allows expression of a pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09b1f6360f4a63fecf3342e07518ca40
https://doi.org/10.1101/2021.11.03.21265887
https://doi.org/10.1101/2021.11.03.21265887
Autor:
John Burian, Lindsay N. Alfano, Tabatha R. Simmons, Roxane Alles, Robert B. Weiss, Melissa Moore-Clingenpeel, Diane M. Dunn, Sang-Cheol Seok, Kevin M. Flanigan, Veronica J. Vieland, Paul T. Martin, Megan A. Waldrop
Although the major determinant of disease severity in patients with severe Duchenne muscular dystrophy (DMD) or milder Becker muscular dystrophy (BMD) is whether their dystrophin gene (DMD) mutation disrupts the mRNA reading frame or allows expressio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1bf8e8ccebe283ed9b7285e320376e61
https://doi.org/10.1101/2021.11.03.21265899
https://doi.org/10.1101/2021.11.03.21265899