Zobrazeno 1 - 10
of 198
pro vyhledávání: '"P N, Robinson"'
Autor:
Guy Karlebach, Robin Steinhaus, Daniel Danis, Maeva Devoucoux, Olga Anczuków, Gloria Sheynkman, Dominik Seelow, Peter N. Robinson
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-10 (2024)
Abstract Numerous factors regulate alternative splicing of human genes at a co-transcriptional level. However, how alternative splicing depends on the regulation of gene expression is poorly understood. We leveraged data from the Genotype-Tissue Expr
Externí odkaz:
https://doaj.org/article/39c63d49bd6b460c87475b63ca1475dd
Autor:
Clara D. M. van Karnebeek, Anne O’Donnell-Luria, Gareth Baynam, Anaïs Baudot, Tudor Groza, Judith J. M. Jans, Timo Lassmann, Mary Catherine V. Letinturier, Stephen B. Montgomery, Peter N. Robinson, Stefaan Sansen, Ruty Mehrian-Shai, Charles Steward, Kenjiro Kosaki, Patricia Durao, Bekim Sadikovic
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: “Ensuri
Externí odkaz:
https://doaj.org/article/669290e2ed32488ea080f09a5a972315
Autor:
Chiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, Roberta Anido, Diego Ardigò, Gareth Baynam, Hugh Dawkins, Ada Hamosh, Yann Le Cam, Helen Malherbe, Caron M. Molster, Lucia Monaco, Carmencita D. Padilla, Anne R. Pariser, Peter N. Robinson, Charlotte Rodwell, Franz Schaefer, Stefanie Weber, Flaminia Macchia
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-6 (2024)
Abstract Improving health and social equity for persons living with a rare disease (PLWRD) is increasingly recognized as a global policy priority. However, there is currently no international alignment on how to define and describe rare diseases. A g
Externí odkaz:
https://doaj.org/article/6511fb647b634113bca47862786d9736
Autor:
Emanuele Cavalleri, Alberto Cabri, Mauricio Soto-Gomez, Sara Bonfitto, Paolo Perlasca, Jessica Gliozzo, Tiffany J. Callahan, Justin Reese, Peter N. Robinson, Elena Casiraghi, Giorgio Valentini, Marco Mesiti
Publikováno v:
Scientific Data, Vol 11, Iss 1, Pp 1-24 (2024)
Abstract The “RNA world” represents a novel frontier for the study of fundamental biological processes and human diseases and is paving the way for the development of new drugs tailored to each patient’s biomolecular characteristics. Although s
Externí odkaz:
https://doaj.org/article/bf58cdba16da4012b04049f45ff9f53e
Autor:
S. J. Salisbury, R. Ruiz Daniels, S. J. Monaghan, J. E. Bron, P. R. Villamayor, O. Gervais, M. D. Fast, L. Sveen, R. D. Houston, N. Robinson, D. Robledo
Publikováno v:
BMC Biology, Vol 22, Iss 1, Pp 1-26 (2024)
Abstract Background Salmonid species have followed markedly divergent evolutionary trajectories in their interactions with sea lice. While sea lice parasitism poses significant economic, environmental, and animal welfare challenges for Atlantic salmo
Externí odkaz:
https://doaj.org/article/b95d5e067e594cc79185be9df68e1590
Publikováno v:
Smart Agricultural Technology, Vol 9, Iss , Pp 100610- (2024)
Online Farm Trials (OFT) is a bespoke online information system providing current and historical grains trials research data and information in Australia. It represents a technology that supports smart agriculture by enabling discoveries in the data.
Externí odkaz:
https://doaj.org/article/f620026df5804383a81108baf26043d1
Autor:
Ben Coleman, Elena Casiraghi, Tiffany J. Callahan, Hannah Blau, Lauren E. Chan, Bryan Laraway, Kevin B. Clark, Yochai Re’em, Ken R. Gersing, Kenneth J. Wilkins, Nomi L. Harris, Giorgio Valentini, Melissa A. Haendel, Justin T. Reese, Peter N. Robinson
Publikováno v:
Translational Psychiatry, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Acute COVID-19 infection can be followed by diverse clinical manifestations referred to as Post Acute Sequelae of SARS-CoV2 Infection (PASC). Studies have shown an increased risk of being diagnosed with new-onset psychiatric disease followin
Externí odkaz:
https://doaj.org/article/9cd3c21c968443bd96aed34375fef247
Autor:
Tiffany J. Callahan, Ignacio J. Tripodi, Adrianne L. Stefanski, Luca Cappelletti, Sanya B. Taneja, Jordan M. Wyrwa, Elena Casiraghi, Nicolas A. Matentzoglu, Justin Reese, Jonathan C. Silverstein, Charles Tapley Hoyt, Richard D. Boyce, Scott A. Malec, Deepak R. Unni, Marcin P. Joachimiak, Peter N. Robinson, Christopher J. Mungall, Emanuele Cavalleri, Tommaso Fontana, Giorgio Valentini, Marco Mesiti, Lucas A. Gillenwater, Brook Santangelo, Nicole A. Vasilevsky, Robert Hoehndorf, Tellen D. Bennett, Patrick B. Ryan, George Hripcsak, Michael G. Kahn, Michael Bada, William A. Baumgartner, Lawrence E. Hunter
Publikováno v:
Scientific Data, Vol 11, Iss 1, Pp 1-22 (2024)
Abstract Translational research requires data at multiple scales of biological organization. Advancements in sequencing and multi-omics technologies have increased the availability of these data, but researchers face significant integration challenge
Externí odkaz:
https://doaj.org/article/2ba11bcf971c40478fb1f6a852218703
Autor:
Daniel Danis, Michael J. Bamshad, Yasemin Bridges, Andrés Caballero-Oteyza, Pilar Cacheiro, Leigh C. Carmody, Leonardo Chimirri, Jessica X. Chong, Ben Coleman, Raymond Dalgleish, Peter J. Freeman, Adam S.L. Graefe, Tudor Groza, Peter Hansen, Julius O.B. Jacobsen, Adam Klocperk, Maaike Kusters, Markus S. Ladewig, Anthony J. Marcello, Teresa Mattina, Christopher J. Mungall, Monica C. Munoz-Torres, Justin T. Reese, Filip Rehburg, Bárbara C.S. Reis, Catharina Schuetz, Damian Smedley, Timmy Strauss, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, John F. Wagstaff, David Zocche, Melissa A. Haendel, Peter N. Robinson
Publikováno v:
HGG Advances, Vol 6, Iss 1, Pp 100371- (2025)
Summary: The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical meas
Externí odkaz:
https://doaj.org/article/2407aca78e494f679194d70b6b83bc68
Publikováno v:
Diabetology, Vol 5, Iss 1, Pp 69-84 (2024)
Diabetes mellitus (type I and II) is an advancing global health problem, concerningly increasing in prevalence in most of the developed and developing world. Current therapies, such as the subcutaneous injection of insulin, are invasive and require a
Externí odkaz:
https://doaj.org/article/fbbb2f43ecfb4cde94cd22923d0738a7