Results 11 to 20 of about 26,955,799 (314)

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. [PDF]

Nucleic Acids Research, 2013
The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined set of 10,088 classes (terms) describing human phenotypic abnormalities and 13,326 subclass relations ...
Smith, C.L., Brown, D. L., Jackson, Andrew P., Leeuw, Nicole de, Doelken, S. C., Black, G.C.M., Campbell, J., Mansour, S, Jackson, Andrew P, Kelly, Anne M., Martin, CL, Kohler, S., Martin, Christa L, Ruef, Barbara J., Jackson, AP, Wright, Caroline F., Girdea, M., Mungall, C. J., Park, Soo-Mi, Girdea, M, Jähn, Johanna, Eppig, J.T., Washingthon, Nicole L., Girdea, Marta, Ouwehand, W.H., Gkoutos, G. V.; id_orcid, Smith, Cynthia, Campbell, Jennifer, Campbell, J, de Leeuw, N, Hurst, Jane A, Wapner, RJ, Scott, Richard H., Westerfield, M, Gkoutos, GV, Brudno, M, Robinson, Peter N., Kelly, AM, Riggs, E.R., Moss, C., Jackson, L. G., Mansour, Sahar, Doelken, S.C., Jahn, J., Wright, Caroline F, FitzPatrick, D. R., Vooren, Steven Van, Ruef, B.J., Kelly, A.M., Ruef, BJ, Scott, R. H., Washingthon, NL, Ledbetter, DH, Freson, K., FitzPatrick, DR, Smith, CL, Firth, H.V., Moss, Celia, Hurst, J. A., FitzPatrick, D.R., Haendel, M., Jackson, L.G., Eppig, J. T., Ruef, B. J., Sisodiya, S., Park, S.M., Bailleul-Forestier, Isabelle, Van Vooren, S., Jackson, Laird G, Köhler, S, Wilkie, Andrew O M, Lewis, SE, Martin, C.L., Robinson, P. N., Mumford, A, Gkoutos, Georgios V., Smedley, Damian, Ouwehand, Willem H, Mumford, Andrew, Firth, Helen V, Haendel, M, Firth, H. V., Hurst, JA, Mungall, C.J., Vulto-van Silfhout, AT, Doelken, Sandra C, Lewis, S. E., Brown, Danielle L., Smedley, D., Vulto-Van Silfhout, Anneke T., Park, Soo Mi, Freson, K, Wilkie, A.O., Martin, Christa L., Riggs, ER, de Vries, Bert B A, Mungall, Christopher J., Vulto-van Silfhout, Anneke T, Ouwehand, W. H., Schofield, P., Vulto-van Silfhout, A. T., Ouwehand, WH, Martin, C. L., Lewis, Suzanna E, Hurst, J.A., Firth, HV, Mungall, Christopher J, Park, S. M., Wilkie, A. O., Westerfield, M., Kelly, A. M., Helbig, Ingo, Jackson, A. P., Doelken, SC, Helbig, I., Wright, C. F., Wright, CF, Schofield, Paul, Firth, Helen V., Köhler, Sebastian, Ledbetter, D.H., Eppig, Janan T., Riggs, E. R., Fitzpatrick, David R, Doelken, Sandra C., Eppig, Janan T, Mumford, A., Vooren, S. van der, Black, G. C., Sisodiya, Sanjay, Smith, Cynthia L, Washingthon, N. L., Kelly, Anne M, Lewis, S.E., de Vries, B. B., Gkoutos, Georgios V, Moss, C, Mansour, S., Riggs, Erin Rooney, Wapner, Ronald J., Black, GC, Scott, R.H., Scott, RH, Robinson, Peter N, Helbig, I, Bauer, Sebastian, Bailleul-Forestier, I., Jähn, J, Hurst, Jane A., Wapner, R. J., Ledbetter, D. H., Jackson, A.P., Ruef, Barbara J, Westerfield, Monte, Jackson, Laird G., Lewis, Suzanna E., de Vries, BB, Fitzpatrick, David R., Vries, B. de, Black, Graeme C M, Gkoutos, G.V., Brudno, Michael, Smith, Cynthia L., Silfhout, A.T. van, Smith, C. L., Brown, Danielle L, Ledbetter, David H, Wright, C.F., Brown, D.L., Mungall, CJ, Schofield, P, Bailleul-Forestier, I, Bauer, S., Haendel, Melissa, Robinson, P.N., Van Vooren, S, Ledbetter, David H., Eppig, JT, Washingthon, Nicole L, Smedley, D, Park, SM, Robinson, PN, Leeuw, N. de, de Leeuw, N., Scott, Richard H, Brudno, M., Jackson, LG, Wapner, R.J., Brown, DL, Wapner, Ronald J, Bauer, S, Mumford, Andrew D, Washingthon, N.L., Sisodiya, S, Freson, Kathleen, Ouwehand, Willem H., Wilkie, AO   +196 more
core   +11 more sources

Digital phenotyping and data inheritance [PDF]

Big Data & Society, 2021
Proponents of precision medicine envision that digital phenotyping can enable more individualized strategies to manage current and future health conditions. We problematize the interpretation of digital phenotypes as straightforward representations of individuals through examples of what we call data inheritance.
Sara Green, Mette N. Svendsen
openaire   +5 more sources

A DNA damage response-like phenotype defines a third of colon cancers at onset. Supplementary data.

, 2023
These are supplemental data to the manuscript entitled: A DNA damage response-like phenotype defines a novel subset of colon cancer. A third of de-novo presentations of colorectal cancer display foci of positivity for ℽH2AX, pCHK2, pNBS1 in the absence ...
Cattoretti, G (via Mendeley Data), Cattoretti, Giorgio   +1 more
core   +3 more sources

Digital phenotyping and the (data) shadow of Alzheimer's disease [PDF]

Big Data & Society, 2022
In this paper, we examine the practice and promises of digital phenotyping. We build on work on the ‘data self’ to focus on a medical domain in which the value and nature of knowledge and relations with data have been played out with particular persistence, that of Alzheimer's disease research.
Richard Milne, Alessia Costa, Natassia Brenman   +2 more
openaire   +4 more sources

Disease and Phenotype Data at Ensembl [PDF]

Current Protocols in Human Genetics, 2011
AbstractBiological databases are an important resource for the life sciences community. Accessing the hundreds of databases supporting molecular biology and related fields is a daunting and time‐consuming task. Integrating this information into one access point is a necessity for the life sciences community, which includes researchers focusing on human
Giulietta M, Spudich, Xosé M, Fernández-Suárez   +1 more
openaire   +2 more sources

Phenotype Driven Data Augmentation Methods for Transcriptomic Data

Bioinformatics Advances, 2023
Abstract With machine learning taking over biomedical applications, working with transcriptomic data on supervised learning tasks is challenging due to high dimensionality, low patient numbers and class imbalances. Machine learning models tend to overfit these data and do not generalise well on out-of-distribution ...
Nikita Janakarajan, Mara Graziani, María Rodríguez Martínez   +2 more
openaire   +3 more sources

Sociodemographic characteristics of missing data in digital phenotyping [PDF]

Scientific Reports, 2021
Abstract The ubiquity of smartphones, with their increasingly sophisticated array of sensors, presents an unprecedented opportunity for researchers to collect longitudinal, diverse, temporally-dense data about human behavior while minimizing participant burden. Researchers increasingly make use of smartphones for “digital phenotyping,”
Mathew V Kiang, Jarvis T Chen, Nancy Krieger, Caroline O Buckee, Monica J Alexander, Justin T Baker, Randy L Buckner, Garth Coombs, Janet W Rich-Edwards, Kenzie W Carlson, Jukka-Pekka Onnela   +10 more
openaire   +4 more sources

Digital phenotyping and sensitive health data: Implications for data governance [PDF]

Journal of the American Medical Informatics Association, 2021
Abstract In this perspective we want to highlight the rise of what we call “digital phenotyping” or inferring insights about peopleãs health and behavior from their digital devices and data, and the challenges this introduces. Indeed, the collection, processing, and storage of data comes with significant ethical, security and data ...
Ignacio Perez-Pozuelo, Dimitris Spathis, Jordan Gifford-Moore, Jessica Morley, Josh Cowls   +4 more
openaire   +2 more sources

Phenobabelomics--mouse phenotype data resources [PDF]

Briefings in Functional Genomics and Proteomics, 2008
An essential aspect to understanding the functional significance of individual genes in the mouse genome is an understanding of the phenotypic consequences of gene mutations. A wide variety of online sites exist that provide different types of phenotypic information on the laboratory mouse.
John M, Hancock, Ann-Marie, Mallon
openaire   +2 more sources

Assessing phenotype order in molecular data [PDF]

Scientific Reports, 2019
AbstractBiological entities are key elements of biomedical research. Their definition and their relationships are important in areas such as phylogenetic reconstruction, developmental processes or tumor evolution. Hypotheses about relationships like phenotype order are often postulated based on prior knowledge or belief.
Ludwig Lausser, Lisa M. Schäfer, Lyn-Rouven Schirra, Robin Szekely, Florian Schmid, Hans A. Kestler   +5 more
openaire   +2 more sources