A5076900300- RNA Research and Splicing
- RNA modifications and cancer
- Digital Imaging in Medicine
- Hair Growth and Disorders
- RNA and protein synthesis mechanisms
- Cutaneous Melanoma Detection and Management
- Face recognition and analysis
Charité - Universitätsmedizin Berlin
2023-2024
Freie Universität Berlin
2023
Humboldt-Universität zu Berlin
2023
Abstract Thousands of genetic variants in protein-coding genes have been linked to disease. However, the functional impact most is unknown as they occur within intrinsically disordered protein regions that poorly defined functions 1–3 . Intrinsically can mediate phase separation and formation biomolecular condensates, such nucleolus 4,5 This suggests mutations proteins may alter condensate properties function 6–8 Here we show a subset disease-associated separation, cause mispartitioning into...
Background While characteristic facial features provide important clues for finding the correct diagnosis in genetic syndromes, valid assessment can be challenging. The next-generation phenotyping algorithm DeepGestalt analyzes patient images and provides syndrome suggestions. GestaltMatcher matches with similar features. new D-Score a score degree of dysmorphism. Objective We aimed to test state-of-the-art tools by benchmarking comparing them DeepGestalt. Methods Using retrospective sample...
<sec> <title>BACKGROUND</title> While characteristic facial features provide important clues for finding the correct diagnosis in genetic syndromes, valid assessment can be challenging. The next-generation phenotyping algorithm DeepGestalt analyzes patient images and provides syndrome suggestions. GestaltMatcher matches with similar features. new D-Score a score degree of dysmorphism. </sec> <title>OBJECTIVE</title> We aimed to test state-of-the-art tools by benchmarking comparing them...