Zobrazeno 1 - 10
of 791
pro vyhledávání: '"Human phenotype ontology"'
Autor:
Guozhuang Li, Kexin Xu, Xiangjie Yin, Jianle Yang, Jihao Cai, Xinyu Yang, Qing Li, Jie Wang, Zhengye Zhao, Aoran Mahesahti, Ning Zhang, Terry Jianguo Zhang, Nan Wu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-7 (2024)
Abstract Phenotypes play a fundamental role in medical genetics, serving as external manifestations of underlying genotypes. Deep phenotyping, a cornerstone of precision medicine, involves precise multi-system phenotype assessments, facilitating dise
Externí odkaz:
https://doaj.org/article/fd75a92a0d754c01b7a0b0048c16eedd
Autor:
Abdulkadir Albayrak, Yao Xiao, Piyush Mukherjee, Sarah S. Barnett, Cherisse A. Marcou, Steven N. Hart
Publikováno v:
Journal of Pathology Informatics, Vol 16, Iss , Pp 100409- (2025)
With the increasing utilization of exome and genome sequencing in clinical and research genetics, accurate and automated extraction of human phenotype ontology (HPO) terms from clinical texts has become imperative. Traditional methods for HPO term ex
Externí odkaz:
https://doaj.org/article/13c3046c6365465d9e453980830d24a1
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
Autor:
Beckwith, Martha A. 1, Danis, Daniel 1, Bridges, Yasemin 2, Jacobsen, Julius O.B. 2, Smedley, Damian 2, Robinson, Peter N. 1, 3, ∗
Publikováno v:
In Genetics in Medicine January 2025 27(1)
Publikováno v:
In Best Practice & Research Clinical Obstetrics & Gynaecology February 2025 98
Autor:
Tudor Groza, Harry Caufield, Dylan Gration, Gareth Baynam, Melissa A. Haendel, Peter N. Robinson, Christopher J. Mungall, Justin T. Reese
Publikováno v:
BMC Medical Informatics and Decision Making, Vol 24, Iss 1, Pp 1-12 (2024)
Abstract Objective Clinical deep phenotyping and phenotype annotation play a critical role in both the diagnosis of patients with rare disorders as well as in building computationally-tractable knowledge in the rare disorders field. These processes r
Externí odkaz:
https://doaj.org/article/f4fb3d1859b74b69815dbe8519d05b0e
Autor:
Willem Maassen, Geertje Legger, Ovgu Kul Cinar, Paul van Daele, Marco Gattorno, Brigitte Bader-Meunier, Carine Wouters, Tracy Briggs, Lennart Johansson, Joeri van der Velde, Morris Swertz, Ebun Omoyinmi, Esther Hoppenreijs, Alexandre Belot, Despina Eleftheriou, Roberta Caorsi, Florence Aeschlimann, Guilaine Boursier, Paul Brogan, Matthias Haimel, Marielle van Gijn
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
IntroductionAccurate and standardized phenotypic descriptions are essential in diagnosing rare diseases and discovering new diseases, and the Human Phenotype Ontology (HPO) system was developed to provide a rich collection of hierarchical phenotypic
Externí odkaz:
https://doaj.org/article/76942faa247e4c1ba731534148725544
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