Cargando…

Human and computer attention in assessing genetic conditions

Deep learning (DL) and other types of artificial intelligence (AI) are increasingly used in many biomedical areas, including genetics. One frequent use in medical genetics involves evaluating images of people with potential genetic conditions to help with diagnosis. A central question involves bette...

Descripción completa

Detalles Bibliográficos
Autores principales:	Duong, Dat, Johny, Anna Rose, Hanchard, Suzanna Ledgister, Fortney, Chris, Hellmann, Fabio, Hu, Ping, Javanmardi, Behnam, Moosa, Shahida, Patel, Tanviben, Persky, Susan, Sümer, Ömer, Tekendo-Ngongang, Cedrik, Hsieh, Tzung-Chien, Waikel, Rebekah L., André, Elisabeth, Krawitz, Peter, Solomon, Benjamin D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10418573/ https://www.ncbi.nlm.nih.gov/pubmed/37577564 http://dx.doi.org/10.1101/2023.07.26.23293119

Ejemplares similares

Neural Networks for Classification and Image Generation of Aging in Genetic Syndromes
por: Duong, Dat, et al.
Publicado: (2022)

Neural network classifiers for images of genetic conditions with cutaneous manifestations
por: Duong, Dat, et al.
Publicado: (2021)

Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes
por: Tekendo-Ngongang, Cedrik, et al.
Publicado: (2021)

Noonan Syndrome in South Africa: Clinical and Molecular Profiles
por: Tekendo-Ngongang, Cedrik, et al.
Publicado: (2019)

A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family
por: Manyisa, Noluthando, et al.
Publicado: (2021)

GestaltMatcher Database - a FAIR database for medical imaging data of rare disorders
por: Lesmann, Hellen, et al.
Publicado: (2023)

Cardiac fibroblast sub-types in vitro reflect pathological cardiac remodeling in vivo
por: Herum, Kate Møller, et al.
Publicado: (2022)

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism
por: Pantel, Jean T., et al.
Publicado: (2018)

Keratocystic odontogenic tumor: case report with CT and ultrasonography findings
por: Sumer, A. Pinar, et al.
Publicado: (2012)

Variation in airborne pollen concentrations among five monitoring locations in a desert urban environment
por: Patel, Tanviben Y., et al.
Publicado: (2018)

Variation in airborne fungal spore concentrations among five monitoring locations in a desert urban environment
por: Patel, Tanviben Y., et al.
Publicado: (2018)

A Virtual Home for the Virtual Clinical Trial
por: Persky, Susan
Publicado: (2020)

Higher Education and the Ethic of Care: Finding a Way Forward During a Global Pandemic
por: Persky, Julia
Publicado: (2021)

The immuno-oncology framework: Enabling a new era of cancer therapy
por: Hoos, Axel, et al.
Publicado: (2012)

Optical Fibre-Based Sensors for Oil and Gas Applications
por: Johny, Jincy, et al.
Publicado: (2021)

Closure of subarterial ventricular septal defect with minimally invasive surgical technique: A case report
por: Duong, Duc Hung, et al.
Publicado: (2019)

Künstliche Intelligenz bei der Diagnose Seltener Erkrankungen: die Entwicklung der Phänotyp-Analyse
por: Krawitz, Peter M.
Publicado: (2022)

A rare case of tuberous sclerosis complex-associated renal cell carcinoma
por: Mapuranga, Humphrey, et al.
Publicado: (2022)

When Can Making a Drawing Hinder Problem Solving? Effect of the Drawing Strategy on Linear Overgeneralizations and Problem Solving
por: Krawitz, Janina, et al.
Publicado: (2020)

Preferences for physician weight status among women with overweight
por: Goldring, M. R., et al.
Publicado: (2018)

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients
por: Guo, Lily, et al.
Publicado: (2022)

Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You‐Hoover‐Fong syndrome
por: Moosa, Shahida, et al.
Publicado: (2017)

Administration of Anesthesia in a Patient with Allgrove Syndrome
por: Ozer, Ayse B., et al.
Publicado: (2012)

Effect of Type 2 Diabetes Mellitus on Prognosis of Nonmetastatic Renal Cell Cancer
por: Süer, Evren, et al.
Publicado: (2013)

Gamma-aminobutyric acid-functionalized naphthalene diimide for aqueous organic flow batteries
por: Shahsavan, Mahsa, et al.
Publicado: (2022)

A Refractive Index Study of a Diverse Set of Polymeric Materials by QSPR with Quantum-Chemical and Additive Descriptors
por: Erickson, Meade E., et al.
Publicado: (2020)

Genetics for all: Tri-directional research engagement as an equitable framework for international partnerships
por: Billawala, Thalia, et al.
Publicado: (2022)

Incorporating prior information into association studies
por: Darnell, Gregory, et al.
Publicado: (2012)

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes
por: Kamphans, Tom, et al.
Publicado: (2012)

Blastomyces species and orbital apex syndrome: Unsuspected co-infection
por: Safneck, Janice R., et al.
Publicado: (2018)

Medical Student Bias and Care Recommendations for an Obese versus Non-Obese Virtual Patient
por: Persky, Susan, et al.
Publicado: (2010)

ED visits for AMI, Stroke, ACS & COPD after the Statewide Smoking Ban in Cook Co., IL
por: Patel, Megan T., et al.
Publicado: (2018)

Lung Cancer Targeted Chemoradiotherapy via Dual-Stimuli Responsive Biodegradable Core-Shell Nanoparticles
por: Iyer, Roshni, et al.
Publicado: (2022)

Lifetime measurements of $\Lambda^{H^{3}}$ and $\Lambda^{H^{4}}$
por: Fortney, L
Publicado: (1964)

T-RMSD: a web server for automated fine-grained protein structural classification
por: Magis, Cedrik, et al.
Publicado: (2013)

Immunological Monitoring to Rationally Guide AAV Gene Therapy
por: Britten, Cedrik Michael, et al.
Publicado: (2013)

Advancing the field of cancer immunotherapy: MIATA consensus guidelines become available to improve data reporting and interpretation for T-cell immune monitoring
por: Hoos, Axel, et al.
Publicado: (2012)

A qualitative study of patients’ perceptions and priorities when living with primary frozen shoulder
por: Jones, Susan, et al.
Publicado: (2013)

Tertiary hospitals physician’s knowledge and perceptions towards antibiotic use and antibiotic resistance in Cameroon
por: Domche Ngongang, Sandra C., et al.
Publicado: (2021)

Novel Physical Fitness Fuzzy Evaluation Model for Individual Health Promotion
por: Chen, Kuen-Suan, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_tqblii4gsfg2e037a7mtkfuag6