Zobrazeno 1 - 10
of 232
pro vyhledávání: '"Frederick P, Roth"'
Autor:
Daniel R. Tabet, Da Kuang, Megan C. Lancaster, Roujia Li, Karen Liu, Jochen Weile, Atina G. Coté, Yingzhou Wu, Robert A. Hegele, Dan M. Roden, Frederick P. Roth
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-14 (2024)
Abstract Background Computational variant effect predictors offer a scalable and increasingly reliable means of interpreting human genetic variation, but concerns of circularity and bias have limited previous methods for evaluating and comparing pred
Externí odkaz:
https://doaj.org/article/be0e465c42924e5dbc503b50ed990281
Autor:
Melina Claussnitzer, Victoria N. Parikh, Alex H. Wagner, Jeremy A. Arbesfeld, Carol J. Bult, Helen V. Firth, Lara A. Muffley, Alex N. Nguyen Ba, Kevin Riehle, Frederick P. Roth, Daniel Tabet, Benedetta Bolognesi, Andrew M. Glazer, Alan F. Rubin
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-8 (2024)
Abstract Multiplexed assays of variant effect (MAVEs) have emerged as a powerful approach for interrogating thousands of genetic variants in a single experiment. The flexibility and widespread adoption of these techniques across diverse disciplines h
Externí odkaz:
https://doaj.org/article/ee5b2abbc9bf4533aed98196fa9861b1
Autor:
Sarah Gersing, Thea K. Schulze, Matteo Cagiada, Amelie Stein, Frederick P. Roth, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-22 (2024)
Abstract Background Amino acid substitutions can perturb protein activity in multiple ways. Understanding their mechanistic basis may pinpoint how residues contribute to protein function. Here, we characterize the mechanisms underlying variant effect
Externí odkaz:
https://doaj.org/article/ae336200514940dba9340a11b8a1aaa3
Autor:
Douglas M. Fowler, David J. Adams, Anna L. Gloyn, William C. Hahn, Debora S. Marks, Lara A. Muffley, James T. Neal, Frederick P. Roth, Alan F. Rubin, Lea M. Starita, Matthew E. Hurles
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-12 (2023)
Abstract Sequencing has revealed hundreds of millions of human genetic variants, and continued efforts will only add to this variant avalanche. Insufficient information exists to interpret the effects of most variants, limiting opportunities for prec
Externí odkaz:
https://doaj.org/article/b9552b874a4a49a68deb254e2408b950
Autor:
Sarah Gersing, Matteo Cagiada, Marinella Gebbia, Anette P. Gjesing, Atina G. Coté, Gireesh Seesankar, Roujia Li, Daniel Tabet, Jochen Weile, Amelie Stein, Anna L. Gloyn, Torben Hansen, Frederick P. Roth, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-23 (2023)
Abstract Background Glucokinase (GCK) regulates insulin secretion to maintain appropriate blood glucose levels. Sequence variants can alter GCK activity to cause hyperinsulinemic hypoglycemia or hyperglycemia associated with GCK-maturity-onset diabet
Externí odkaz:
https://doaj.org/article/f21cc0a236d84a9c9c7553a60799c36e
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-27 (2023)
Abstract The impact of millions of individual genetic variants on molecular phenotypes in coding sequences remains unknown. Multiplexed assays of variant effect (MAVEs) are scalable methods to annotate relevant variants, but existing software lacks s
Externí odkaz:
https://doaj.org/article/60ccef6a0ad84ac4a12bbf4a0ae266dd
Autor:
Hong-Wen Tang, Kerstin Spirohn, Yanhui Hu, Tong Hao, István A. Kovács, Yue Gao, Richard Binari, Donghui Yang-Zhou, Kenneth H. Wan, Joel S. Bader, Dawit Balcha, Wenting Bian, Benjamin W. Booth, Atina G. Coté, Steffi de Rouck, Alice Desbuleux, Kah Yong Goh, Dae-Kyum Kim, Jennifer J. Knapp, Wen Xing Lee, Irma Lemmens, Cathleen Li, Mian Li, Roujia Li, Hyobin Julianne Lim, Yifang Liu, Katja Luck, Dylan Markey, Carl Pollis, Sudharshan Rangarajan, Jonathan Rodiger, Sadie Schlabach, Yun Shen, Dayag Sheykhkarimli, Bridget TeeKing, Frederick P. Roth, Jan Tavernier, Michael A. Calderwood, David E. Hill, Susan E. Celniker, Marc Vidal, Norbert Perrimon, Stephanie E. Mohr
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
Abstract Generating reference maps of interactome networks illuminates genetic studies by providing a protein-centric approach to finding new components of existing pathways, complexes, and processes. We apply state-of-the-art methods to identify bin
Externí odkaz:
https://doaj.org/article/e41758225ff34dd59dda7af0132321d4
Autor:
Benjamin Weller, Chung-Wen Lin, Oxana Pogoutse, Mayra Sauer, Nora Marin-de la Rosa, Alexandra Strobel, Veronika Young, Jennifer J Knapp, Ashyad Rayhan, Claudia Falter, Dae-Kyum Kim, Frederick P Roth, Pascal Falter-Braun
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 13, Iss 7 (2023)
AbstractThe COVID-19 pandemic has catalyzed unprecedented scientific data and reagent sharing and collaboration, which enabled understanding the virology of the SARS-CoV-2 virus and vaccine development at record speed. The pandemic, however, has also
Externí odkaz:
https://doaj.org/article/22d7da279c7548adb2ca6ba375ae2031
Autor:
Dominik Röding, Renate Soellner, Maren Reder, Vera Birgel, Constantin Kleiner, Maike Stolz, Frederick Groeger-Roth, Christian Krauth, Ulla Walter
Publikováno v:
BMC Public Health, Vol 21, Iss 1, Pp 1-9 (2021)
Abstract Background The Communities That Care (CTC) prevention planning and implementation system trains communities throughout a five-phase cycle to (1) build capacity for prevention, (2) adopt science-based prevention, (3) assess the prevention nee
Externí odkaz:
https://doaj.org/article/cf8c2f8c5b7841d49d972161745a6afb
Autor:
Dongsic Choi, Nargis Khan, Laura Montermini, Nadim Tawil, Brian Meehan, Dae‐Kyum Kim, Frederick P. Roth, Maziar Divangahi, Janusz Rak
Publikováno v:
Journal of Extracellular Biology, Vol 1, Iss 10, Pp n/a-n/a (2022)
Abstract SARS‐CoV‐2 viral infection led to the devastating COVID‐19 pandemic, where illness stemmed from interactions between virions and recipient host cells resulting in multi‐layered pathological consequences. The role of the infection por
Externí odkaz:
https://doaj.org/article/7db91fd7ef3743dfb7dfa04d6a83b2c6