Zobrazeno 1 - 10
of 48
pro vyhledávání: '"P N, Schofield"'
Autor:
Karin Slater, Paul N. Schofield, James Wright, Paul Clift, Anushka Irani, William Bradlow, Furqan Aziz, Georgios V. Gkoutos
Publikováno v:
npj Digital Medicine, Vol 7, Iss 1, Pp 1-14 (2024)
Abstract Deep phenotyping describes the use of standardised terminologies to create comprehensive phenotypic descriptions of biomedical phenomena. These characterisations facilitate secondary analysis, evidence synthesis, and practitioner awareness,
Externí odkaz:
https://doaj.org/article/df996d71dd114304aee6f1987d2cf016
Publikováno v:
Scientific Data, Vol 9, Iss 1, Pp 1-9 (2022)
Measurement(s) surviving fraction of cells Technology Type(s) optical microscopy Factor Type(s) absorbed dose Sample Characteristic - Organism Homo sapiens • Chinese hamster • Rattus sp. Sample Characteristic - Environment cell culture
Externí odkaz:
https://doaj.org/article/04fffc5a94f147068f71ea7a11323b23
Autor:
J. H. Pugsley, J. A. Howell, A. Hartley, S. J. Buckley, R. Brackenridge, N. Schofield, G. Maxwell, M. Chmielewska, K. Ringdal, N. Naumann, J. Vanbiervliet
Publikováno v:
Geoscience Communication, Vol 5, Pp 227-249 (2022)
The advent of photorealistic, 3D computer models of cliff sections (virtual outcrops) has improved the immersive nature of virtual geological field trips. As the COVID-19 pandemic led to widespread national and international travel restrictions, virt
Externí odkaz:
https://doaj.org/article/65ffec2394124676a1f3f913769edd35
Autor:
Markus S. Ladewig, Julius O. B. Jacobsen, Alex H. Wagner, Daniel Danis, Baha El Kassaby, Michael Gargano, Tudor Groza, Michael Baudis, Robin Steinhaus, Dominik Seelow, Nikolaos E. Bechrakis, Christopher J. Mungall, Paul N. Schofield, Olivier Elemento, Lindsay Smith, Julie A. McMurry, Monica Munoz‐Torres, Melissa A. Haendel, Peter N. Robinson
Publikováno v:
Advanced Genetics, Vol 4, Iss 1, Pp n/a-n/a (2023)
Abstract The Global Alliance for Genomics and Health (GA4GH) is developing a suite of coordinated standards for genomics for healthcare. The Phenopacket is a new GA4GH standard for sharing disease and phenotype information that characterizes an indiv
Externí odkaz:
https://doaj.org/article/8b38a05352e2438485566a378a383583
Publikováno v:
Ecosphere, Vol 14, Iss 2, Pp n/a-n/a (2023)
Abstract Ranges of species around the world are expected to contract in response to climate change. Species distribution models (SDMs) are a powerful tool for predicting changes in habitat availability, but the variables selected to create SDMs influ
Externí odkaz:
https://doaj.org/article/adc2452da9704143b2db7b97c2149497
Publikováno v:
Journal of Biomedical Semantics, Vol 12, Iss 1, Pp 1-15 (2021)
Abstract Background In recent years a large volume of clinical genomics data has become available due to rapid advances in sequencing technologies. Efficient exploitation of this genomics data requires linkage to patient phenotype profiles. Current r
Externí odkaz:
https://doaj.org/article/d0d6817ac7ad4aa6b7df1d70783c2e2b
Contribution of model organism phenotypes to the computational identification of human disease genes
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 7 (2022)
Computing phenotypic similarity helps identify new disease genes and diagnose rare diseases. Genotype–phenotype data from orthologous genes in model organisms can compensate for lack of human data and increase genome coverage. In the past decade, c
Externí odkaz:
https://doaj.org/article/0042250c76d9478faaffbb82df7cf580
Autor:
Marwa Abdelhakim, Eunice McMurray, Ali Raza Syed, Senay Kafkas, Allan Anthony Kamau, Paul N Schofield, Robert Hoehndorf
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Inborn errors of metabolism (IEM) represent a subclass of rare inherited diseases caused by a wide range of defects in metabolic enzymes or their regulation. Of over a thousand characterized IEMs, only about half are understood at
Externí odkaz:
https://doaj.org/article/8c894fb0be8444c2b38c85e275b9df18
Publikováno v:
BMC Bioinformatics, Vol 20, Iss 1, Pp 1-8 (2019)
Abstract Background Prioritization of variants in personal genomic data is a major challenge. Recently, computational methods that rely on comparing phenotype similarity have shown to be useful to identify causative variants. In these methods, pathog
Externí odkaz:
https://doaj.org/article/94b829447d024000b5f6956e0b2b7462
Publikováno v:
Paediatrica Indonesiana, Vol 32, Iss 11-12, Pp 283-97 (2019)
The relation between common illnesses, growth and breast milk and food intake was assessed in a-longitudinal population based study, covering 300 children, age 0-36 months. Morbidity was quite prevalent with a peak at age 4-24 months. It did, however
Externí odkaz:
https://doaj.org/article/dc600a620a964e8fb4eb268cd609e6f8