Measuring phenotype-phenotype similarity through the interactome

by Jiajie Peng, Weiwei Hui, Xuequn Shang
Published 2018-04-01

Investigations on factors influencing HPO-based semantic similarity calculation

by Jiajie Peng, Qianqian Li, Xuequn Shang
Published 2017-09-01

An online tool for measuring and visualizing phenotype similarities using HPO

by Jiajie Peng, Hansheng Xue, Weiwei Hui, Junya Lu, Bolin Chen, Qinghua Jiang, Xuequn Shang, Yadong Wang
Published 2018-08-01

A new method to measure the semantic similarity from query phenotypic abnormalities to diseases based on the human phenotype ontology

by Xiaofeng Gong, Jianping Jiang, Zhongqu Duan, Hui Lu
Published 2018-05-01

Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

by Leigh C. Carmody, Hannah Blau, Daniel Danis, Xingman A. Zhang, Jean-Philippe Gourdine, Nicole Vasilevsky, Peter Krawitz, Miles D. Thompson, Peter N. Robinson
Published 2020-02-01

An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA)

by Haitham Maarouf, María Taboada, Hadriana Rodriguez, Manuel Arias, Ángel Sesar, María Jesús Sobrido
Published 2017-12-01

Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods

by Marco Notaro, Max Schubach, Peter N. Robinson, Giorgio Valentini
Published 2017-10-01

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders

by Jignesh R. Parikh, Casie A. Genetti, Asli Aykanat, Catherine A. Brownstein, Klaus Schmitz-Abe, Morgan Danowski, Andrew Quitadomo, Jill A. Madden, Calum Yacoubian, Richard Gain, Tessa Williams, Mary Meskell, Andrew Brown, Alison Frith, Shira Rockowitz, Piotr Sliz, Pankaj B. Agrawal, Thomas Defay, Paul McDonagh, John Reynders, Sebastien Lefebvre, Alan H. Beggs
Published 2021-07-01

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

by Timothy Gall, Timothy Gall, Elise Valkanas, Christofer Bello, Thomas Markello, Christopher Adams, William P. Bone, Alexander J. Brandt, Jennifer M. Brazill, Lynn Carmichael, Mariska Davids, Joie Davis, Zoraida Diaz-Perez, David Draper, David Draper, Jeremy Elson, Elise D. Flynn, Rena Godfrey, Catherine Groden, Cheng-Kang Hsieh, Roxanne Fischer, Gretchen A. Golas, Jessica Guzman, Yan Huang, Megan S. Kane, Elizabeth Lee, Chong Li, Amanda E. Links, Valerie Maduro, May Christine V. Malicdan, Fayeza S. Malik, Michele Nehrebecky, Joun Park, Paul Pemberton, Katherine Schaffer, Dimitre Simeonov, Murat Sincan, Damian Smedley, Zaheer Valivullah, Colleen Wahl, Nicole Washington, Lynne A. Wolfe, Lynne A. Wolfe, Karen Xu, Yi Zhu, William A. Gahl, William A. Gahl, Cynthia J. Tifft, Cynthia J. Tifft, Camillo Toro, David R. Adams, David R. Adams, Miao He, Miao He, Peter N. Robinson, Melissa A. Haendel, R. Grace Zhai, Cornelius F. Boerkoel
Published 2017-05-01

A new synonym-substitution method to enrich the human phenotype ontology

by Maria Taboada, Hadriana Rodriguez, Ranga C. Gudivada, Diego Martinez
Published 2017-10-01

HPOAnnotator: improving large-scale prediction of HPO annotations by low-rank approximation with HPO semantic similarities and multiple PPI networks

by Junning Gao, Lizhi Liu, Shuwei Yao, Xiaodi Huang, Hiroshi Mamitsuka, Shanfeng Zhu
Published 2019-12-01

Neural Inductive Matrix Completion for Predicting Disease-Gene Associations

by Hou, Siqing
Published 2018

Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer

by Elena Rojano, José Córdoba-Caballero, Fernando M. Jabato, Diana Gallego, Mercedes Serrano, Belén Pérez, Álvaro Parés-Aguilar, James R. Perkins, Juan A. G. Ranea, Pedro Seoane-Zonjic
Published 2021-07-01

A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets

by Teresa Requena, Alvaro Gallego-Martinez, Jose A. Lopez-Escamez
Published 2017-05-01

An ontological foundation for ocular phenotypes and rare eye diseases

by Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson, Hélène Dollfus, for the ERN-EYE Ontology Study Group
Published 2019-01-01

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

by Valentina Cipriani, Nikolas Pontikos, Gavin Arno, Panagiotis I. Sergouniotis, Eva Lenassi, Penpitcha Thawong, Daniel Danis, Michel Michaelides, Andrew R. Webster, Anthony T. Moore, Peter N. Robinson, Julius O.B. Jacobsen, Damian Smedley
Published 2020-04-01

Gene- and Disease-Based Expansion of the Knowledge on Inborn Errors of Immunity

by Lyubov E. Salnikova, Lyubov E. Salnikova, Lyubov E. Salnikova, Ekaterina V. Chernyshova, Lyudmila A. Anastasevich, Sergey S. Larin
Published 2019-10-01

HPO2GO: prediction of human phenotype ontology term associations for proteins using cross ontology annotation co-occurrences

by Tunca Doğan
Published 2018-08-01

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

by Jessica L. Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky, Jason R. Vanstone, Melissa Gibbons, Abigail Collins, Brent L. Fogel, Care4Rare Canada Consortium, Tracy Dudding-Byth, Kym M. Boycott
Published 2017-06-01