Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
出版年份 2023 全文链接
标题
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
作者
关键词
-
出版物
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2023-11-06
DOI
10.1038/s41431-023-01486-7
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Phen2Disease: a phenotype-driven model for disease and gene prioritization by bidirectional maximum matching semantic similarities
- (2023) Weiqi Zhai et al. BRIEFINGS IN BIOINFORMATICS
- PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
- (2023) Alexander J. M. Dingemans et al. NATURE GENETICS
- Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease
- (2022) Julius O. B. Jacobsen et al. HUMAN MUTATION
- Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients
- (2022) Galliano Zanello et al. Orphanet Journal of Rare Diseases
- Phenotype-aware prioritisation of rare Mendelian disease variants
- (2022) Catherine Kelly et al. TRENDS IN GENETICS
- Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
- (2021) Birte Zurek et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
- (2021) Leslie Matalonga et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
- (2021) et al. NEW ENGLAND JOURNAL OF MEDICINE
- New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases
- (2020) Taila Hartley et al. Annual Review of Genomics and Human Genetics
- AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature
- (2020) Johannes Birgmeier et al. Science Translational Medicine
- Interpretable Clinical Genomics with a Likelihood Ratio Paradigm
- (2020) Peter N. Robinson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis
- (2019) Qigang Li et al. GENETICS IN MEDICINE
- Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
- (2019) Stéphanie Nguengang Wakap et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Improved ontology-based similarity calculations using a study-wise annotation model
- (2018) Sebastian Köhler Database-The Journal of Biological Databases and Curation
- PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases
- (2018) Toyofumi Fujiwara et al. AMERICAN JOURNAL OF HUMAN GENETICS
- MOLGENIS Research: Advanced bioinformatics data software for non-bioinformaticians
- (2018) K Joeri van der Velde et al. BIOINFORMATICS
- From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing
- (2016) Steve Laurie et al. HUMAN MUTATION
- Cytoscape.js: a graph theory library for visualisation and analysis
- (2015) Max Franz et al. BIOINFORMATICS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering
- (2015) Daniyal Daud et al. JOURNAL OF NEUROLOGY
- The European Genome-phenome Archive of human data consented for biomedical research
- (2015) Ilkka Lappalainen et al. NATURE GENETICS
- PhenoDigm: analyzing curated annotations to associate animal models with human diseases
- (2013) D. Smedley et al. Database-The Journal of Biological Databases and Curation
- Bayesian ontology querying for accurate and noise-tolerant semantic searches
- (2012) S. Bauer et al. BIOINFORMATICS
- Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
- (2010) Janel O. Johnson et al. NEURON
- Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
- (2009) Sebastian Köhler et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Semantic Similarity in Biomedical Ontologies
- (2009) Catia Pesquita et al. PLoS Computational Biology
- The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease
- (2008) Peter N. Robinson et al. AMERICAN JOURNAL OF HUMAN GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started