PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
出版年份 2023 全文链接
标题
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
作者
关键词
-
出版物
NATURE GENETICS
Volume 55, Issue 9, Pages 1598-1607
出版商
Springer Science and Business Media LLC
发表日期
2023-08-08
DOI
10.1038/s41588-023-01469-w
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。- Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases
- (2022) Xiao Yuan et al. BRIEFINGS IN BIOINFORMATICS
- Explainable Deep Learning: A Field Guide for the Uninitiated
- (2022) Gabrielle Ras et al. JOURNAL OF ARTIFICIAL INTELLIGENCE RESEARCH
- GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
- (2022) Tzung-Chien Hsieh et al. NATURE GENETICS
- Genetic variants underlying differences in facial morphology in East Asian and European populations
- (2022) Manfei Zhang et al. NATURE GENETICS
- Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil
- (2022) Ana Julia da Cunha Leite et al. PLoS One
- Estimating diagnostic noise in panel-based genomic analysis
- (2022) Robin N. Beaumont et al. GENETICS IN MEDICINE
- Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory
- (2022) Richard C. Caswell et al. Genome Medicine
- Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information
- (2021) Alexander J. M. Dingemans et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
- (2021) Joery den Hoed et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome
- (2021) Alexander J. M. Dingemans et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- AI-based pathology predicts origins for cancers of unknown primary
- (2021) Ming Y. Lu et al. NATURE
- Shared heritability of human face and brain shape
- (2021) Sahin Naqvi et al. NATURE GENETICS
- Optical genome mapping enables constitutional chromosomal aberration detection
- (2021) Tuomo Mantere et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping
- (2021) Kornelia Neveling et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Classification of MSH6 Variants of Uncertain Significance Using Functional Assays
- (2021) Jane H. Frederiksen et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- AI outperforms radiologists in mammographic screening
- (2020) David Killock Nature Reviews Clinical Oncology
- Interpretable Clinical Genomics with a Likelihood Ratio Paradigm
- (2020) Peter N. Robinson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype
- (2020) Michael S. Breen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Long-read human genome sequencing and its applications
- (2020) Glennis A. Logsdon et al. NATURE REVIEWS GENETICS
- Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance
- (2020) Paulo C. M. Lyra et al. GENETICS IN MEDICINE
- The road ahead in genetics and genomics
- (2020) Amy L. McGuire et al. NATURE REVIEWS GENETICS
- Insights into the genetic architecture of the human face
- (2020) Julie D. White et al. NATURE GENETICS
- A Style-Based Generator Architecture for Generative Adversarial Networks
- (2020) Tero Karras et al. IEEE TRANSACTIONS ON PATTERN ANALYSIS AND MACHINE INTELLIGENCE
- De novo and biallelic DEAF1 variants cause a phenotypic spectrum
- (2019) Maria J. Nabais Sá et al. GENETICS IN MEDICINE
- Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
- (2019) Eric G. Bend et al. Clinical Epigenetics
- PEDIA: prioritization of exome data by image analysis
- (2019) Tzung-Chien Hsieh et al. GENETICS IN MEDICINE
- Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization
- (2018) Karthik A. Jagadeesh et al. GENETICS IN MEDICINE
- Genome-wide mapping of global-to-local genetic effects on human facial shape
- (2018) Peter Claes et al. NATURE GENETICS
- Predicting the clinical impact of human mutation with deep neural networks
- (2018) Laksshman Sundaram et al. NATURE GENETICS
- A universal SNP and small-indel variant caller using deep neural networks
- (2018) Ryan Poplin et al. NATURE BIOTECHNOLOGY
- Classification and mutation prediction from non–small cell lung cancer histopathology images using deep learning
- (2018) Nicolas Coudray et al. NATURE MEDICINE
- Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders
- (2018) Roos van der Donk et al. GENETICS IN MEDICINE
- Identifying facial phenotypes of genetic disorders using deep learning
- (2018) Yaron Gurovich et al. NATURE MEDICINE
- Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
- (2018) Sebastian Köhler et al. NUCLEIC ACIDS RESEARCH
- Towards precision medicine
- (2016) Euan A. Ashley NATURE REVIEWS GENETICS
- The Human Phenotype Ontology in 2017
- (2016) Sebastian Köhler et al. NUCLEIC ACIDS RESEARCH
- The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
- (2015) David A Koolen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- 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
- Next-generation diagnostics and disease-gene discovery with the Exomiser
- (2015) Damian Smedley et al. Nature Protocols
- Phenotype-driven strategies for exome prioritization of human Mendelian disease genes
- (2015) Damian Smedley et al. Genome Medicine
- Genome sequencing identifies major causes of severe intellectual disability
- (2014) Christian Gilissen et al. NATURE
- A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
- (2014) Céline Helsmoortel et al. NATURE GENETICS
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
- (2014) T. Zemojtel et al. Science Translational Medicine
- Diagnostically relevant facial gestalt information from ordinary photos
- (2014) Quentin Ferry et al. eLife
- Improved exome prioritization of disease genes through cross-species phenotype comparison
- (2013) P. N. Robinson et al. GENOME RESEARCH
- Clinical Significance of De Novo and Inherited Copy-Number Variation
- (2013) Anneke T. Vulto-van Silfhout et al. HUMAN MUTATION
- Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
- (2012) Anita Rauch et al. LANCET
- Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
- (2012) Marcella Zollino et al. NATURE GENETICS
- Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
- (2012) David A Koolen et al. NATURE GENETICS
- Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
- (2012) Joep de Ligt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: Variant reclassification and surgical decisions
- (2011) Mitzi L. Murray et al. GENETICS IN MEDICINE
- Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome
- (2010) I. Filges et al. JOURNAL OF MEDICAL GENETICS
- De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
- (2010) Alexander Hoischen et al. NATURE GENETICS
- A de novo paradigm for mental retardation
- (2010) Lisenka E L M Vissers et al. NATURE GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- The Path to Personalized Medicine
- (2010) Margaret A. Hamburg et al. NEW ENGLAND JOURNAL OF MEDICINE
- Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
- (2009) Sebastian Köhler et al. AMERICAN JOURNAL OF HUMAN GENETICS
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease
- (2008) Peter N. Robinson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Metrics for GO based protein semantic similarity: a systematic evaluation
- (2008) Catia Pesquita et al. BMC BIOINFORMATICS
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now