Zobrazeno 1 - 10
of 779
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:
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
Autor:
Haowei Du, Angad Jolly, Christopher M. Grochowski, Bo Yuan, Moez Dawood, Shalini N. Jhangiani, He Li, Donna Muzny, Jawid M. Fatih, Zeynep Coban-Akdemir, Mary Esther Carlin, Angela E. Scheuerle, Karin Witzl, Jennifer E. Posey, Matthew Pendleton, Eoghan Harrington, Sissel Juul, P. J. Hastings, Weimin Bi, Richard A. Gibbs, Fritz J. Sedlazeck, James R. Lupski, Claudia M. B. Carvalho, Pengfei Liu
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-21 (2022)
Abstract Background The multiple de novo copy number variant (MdnCNV) phenotype is described by having four or more constitutional de novo CNVs (dnCNVs) arising independently throughout the human genome within one generation. It is a rare peri-zygoti
Externí odkaz:
https://doaj.org/article/fea7d8f692a64a578e2bc6531220b304
Autor:
Olivia J. Henry, Tommy Stödberg, Sofia Båtelson, Chiara Rasi, Henrik Stranneheim, Anna Wedell
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 7, Pp n/a-n/a (2023)
Abstract Background The majority of genetic epilepsies remain unsolved in terms of specific genotype. Phenotype‐based genomic analyses have shown potential to strengthen genomic analysis in various ways, including improving analytical efficacy. Met
Externí odkaz:
https://doaj.org/article/1e9bbd3ec36b4ec1abfd346beee3915d
Akademický článek
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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
Autor:
Gabrielle Stinton, Jane A. Lieviant, Sylvia Kam, Jiin Ying Lim, Jasmine Chew-Yin Goh, Weng Khong Lim, Gareth Baynam, Tele Tan, Duc-Son Pham, Saumya Shekhar Jamuar
Publikováno v:
Rare, Vol 1, Iss , Pp 100007- (2023)
Leveraging Artificial Intelligence (AI) within the rare disease diagnostic odyssey can facilitate a decrease in diagnostic times and an increase in diagnostic rates. Among the steps involved in the odyssey, this project focused on utilizing AI to aut
Externí odkaz:
https://doaj.org/article/322f328574b045dab9429b0b8a61fc93
Autor:
Justin T. Reese, Hannah Blau, Elena Casiraghi, Timothy Bergquist, Johanna J. Loomba, Tiffany J. Callahan, Bryan Laraway, Corneliu Antonescu, Ben Coleman, Michael Gargano, Kenneth J. Wilkins, Luca Cappelletti, Tommaso Fontana, Nariman Ammar, Blessy Antony, T.M. Murali, J. Harry Caufield, Guy Karlebach, Julie A. McMurry, Andrew Williams, Richard Moffitt, Jineta Banerjee, Anthony E. Solomonides, Hannah Davis, Kristin Kostka, Giorgio Valentini, David Sahner, Christopher G. Chute, Charisse Madlock-Brown, Melissa A. Haendel, Peter N. Robinson, Heidi Spratt, Shyam Visweswaran, Joseph Eugene Flack, IV, Yun Jae Yoo, Davera Gabriel, G. Caleb Alexander, Hemalkumar B. Mehta, Feifan Liu, Robert T. Miller, Rachel Wong, Elaine L. Hill, Lorna E. Thorpe, Jasmin Divers
Publikováno v:
EBioMedicine, Vol 87, Iss , Pp 104413- (2023)
Summary: Background: Stratification of patients with post-acute sequelae of SARS-CoV-2 infection (PASC, or long COVID) would allow precision clinical management strategies. However, long COVID is incompletely understood and characterised by a wide ra
Externí odkaz:
https://doaj.org/article/f4635ea98874437da59d335d9ba0de7a
Autor:
Stuart Aitken, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, David R. FitzPatrick, Colin A. Semple
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100162- (2023)
Summary: Diagnosing rare developmental disorders using genome-wide sequencing data commonly necessitates review of multiple plausible candidate variants, often using ontologies of categorical clinical terms. We show that Integrating Multiple Phenotyp
Externí odkaz:
https://doaj.org/article/02b9675f33534c6bae4aba0033a026ad