FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4385851257> ?p ?o ?g. }

• W4385851257 abstract "With the advances in computer vision, computational facial analysis has become a powerful and effective tool for diagnosing rare disorders. This technology, also called next-generation phenotyping (NGP), has progressed significantly over the last decade. This review paper will introduce three key NGP approaches. In 2014, Ferry et al. first presented Clinical Face Phenotype Space (CFPS) trained on eight syndromes. After 5 years, Gurovich et al. proposed DeepGestalt, a deep convolutional neural network trained on more than 21,000 patient images with 216 disorders. It was considered a state-of-the-art disorder classification framework. In 2022, Hsieh et al. developed GestaltMatcher to support the ultra-rare and novel disorders not supported in DeepGestalt. It further enabled the analysis of facial similarity presented in a given cohort or multiple disorders. Moreover, this article will present the usage of NGP for variant prioritization and facial gestalt delineation. Although NGP approaches have proven their capability in assisting the diagnosis of many disorders, many limitations remain. This article will introduce two future directions to address two main limitations: enabling the global collaboration for a medical imaging database that fulfills the FAIR principles and synthesizing patient images to protect patient privacy. In the end, with more and more NGP approaches emerging, we envision that the NGP technology can assist clinicians and researchers in diagnosing patients and analyzing disorders in multiple directions in the near future." @default.
• W4385851257 created "2023-08-17" @default.
• W4385851257 creator A5013713722 @default.
• W4385851257 creator A5066913932 @default.
• W4385851257 date "2023-08-16" @default.
• W4385851257 modified "2023-10-12" @default.
• W4385851257 title "Computational facial analysis for rare Mendelian disorders" @default.
• W4385851257 cites W1849277567 @default.
• W4385851257 cites W2012361142 @default.
• W4385851257 cites W2051978340 @default.
• W4385851257 cites W2110586068 @default.
• W4385851257 cites W2130011177 @default.
• W4385851257 cites W2150983882 @default.
• W4385851257 cites W2160995259 @default.
• W4385851257 cites W2166408662 @default.
• W4385851257 cites W2282821441 @default.
• W4385851257 cites W2302501749 @default.
• W4385851257 cites W2325939864 @default.
• W4385851257 cites W2429856102 @default.
• W4385851257 cites W2613076705 @default.
• W4385851257 cites W2725358685 @default.
• W4385851257 cites W2777154445 @default.
• W4385851257 cites W2781534540 @default.
• W4385851257 cites W2901529951 @default.
• W4385851257 cites W2904064413 @default.
• W4385851257 cites W2905441841 @default.
• W4385851257 cites W2919288702 @default.
• W4385851257 cites W2921313412 @default.
• W4385851257 cites W2924804716 @default.
• W4385851257 cites W2962770929 @default.
• W4385851257 cites W2962793481 @default.
• W4385851257 cites W2962858109 @default.
• W4385851257 cites W2963466847 @default.
• W4385851257 cites W2965661716 @default.
• W4385851257 cites W2969985801 @default.
• W4385851257 cites W2973136764 @default.
• W4385851257 cites W3029892634 @default.
• W4385851257 cites W3196566835 @default.
• W4385851257 cites W3217435001 @default.
• W4385851257 cites W4211105116 @default.
• W4385851257 cites W4223967714 @default.
• W4385851257 cites W4226350219 @default.
• W4385851257 cites W4282918066 @default.
• W4385851257 cites W4291383171 @default.
• W4385851257 cites W4295909214 @default.
• W4385851257 cites W4307497977 @default.
• W4385851257 cites W4312749295 @default.
• W4385851257 cites W4316511362 @default.
• W4385851257 cites W4319299677 @default.
• W4385851257 cites W4319300095 @default.
• W4385851257 cites W4319300767 @default.
• W4385851257 cites W4324117007 @default.
• W4385851257 cites W4362470163 @default.
• W4385851257 cites W4366997764 @default.
• W4385851257 cites W4367692461 @default.
• W4385851257 cites W4377091950 @default.
• W4385851257 cites W4378802689 @default.
• W4385851257 cites W4380323373 @default.
• W4385851257 cites W4380881042 @default.
• W4385851257 cites W4386083096 @default.
• W4385851257 doi "https://doi.org/10.1002/ajmg.c.32061" @default.
• W4385851257 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37584245" @default.
• W4385851257 hasPublicationYear "2023" @default.
• W4385851257 type Work @default.
• W4385851257 citedByCount "0" @default.
• W4385851257 crossrefType "journal-article" @default.
• W4385851257 hasAuthorship W4385851257A5013713722 @default.
• W4385851257 hasAuthorship W4385851257A5066913932 @default.
• W4385851257 hasBestOaLocation W43858512571 @default.
• W4385851257 hasConcept C153180895 @default.
• W4385851257 hasConcept C154945302 @default.
• W4385851257 hasConcept C15744967 @default.
• W4385851257 hasConcept C169760540 @default.
• W4385851257 hasConcept C2522767166 @default.
• W4385851257 hasConcept C26517878 @default.
• W4385851257 hasConcept C26760741 @default.
• W4385851257 hasConcept C27362006 @default.
• W4385851257 hasConcept C38652104 @default.
• W4385851257 hasConcept C41008148 @default.
• W4385851257 hasConcept C81363708 @default.
• W4385851257 hasConceptScore W4385851257C153180895 @default.
• W4385851257 hasConceptScore W4385851257C154945302 @default.
• W4385851257 hasConceptScore W4385851257C15744967 @default.
• W4385851257 hasConceptScore W4385851257C169760540 @default.
• W4385851257 hasConceptScore W4385851257C2522767166 @default.
• W4385851257 hasConceptScore W4385851257C26517878 @default.
• W4385851257 hasConceptScore W4385851257C26760741 @default.
• W4385851257 hasConceptScore W4385851257C27362006 @default.
• W4385851257 hasConceptScore W4385851257C38652104 @default.
• W4385851257 hasConceptScore W4385851257C41008148 @default.
• W4385851257 hasConceptScore W4385851257C81363708 @default.
• W4385851257 hasIssue "3" @default.
• W4385851257 hasLocation W43858512571 @default.
• W4385851257 hasLocation W43858512572 @default.
• W4385851257 hasOpenAccess W4385851257 @default.
• W4385851257 hasPrimaryLocation W43858512571 @default.
• W4385851257 hasRelatedWork W1593175091 @default.
• W4385851257 hasRelatedWork W2385281989 @default.
• W4385851257 hasRelatedWork W2501344691 @default.
• W4385851257 hasRelatedWork W2594897072 @default.

• next