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Published in 2025 at "Human genetics"
DOI: 10.1007/s00439-025-02775-5
Abstract: Many pathogenic variants implicated in Mendelian diseases impair normal protein function, often through loss-of-function effects, while loss-of-function mutations in tumor suppressor genes commonly contribute to tumorigenesis. However, many disease-causing variants act through gain-of-function or other…
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Keywords:
tool predicts;
function;
mutant mutation;
mutation ... See more keywords
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Published in 2024 at "ACS Omega"
DOI: 10.1021/acsomega.4c06450
Abstract: Organoids are self-assembled 3D cellular structures that resemble organs structurally and functionally, providing in vitro platforms for molecular and therapeutic studies. Generation of organoids from human cells often requires long and costly procedures with arguably…
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Keywords:
organolabeler quick;
data sets;
accurate annotation;
annotation tool ... See more keywords
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Published in 2022 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btab880
Abstract: SUMMARY Building a high-quality annotation corpus requires expenditure of considerable time and expertise, particularly for biomedical and clinical research applications. Most existing annotation tools provide many advanced features to cover a variety of needs where…
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Keywords:
serverless annotation;
medtator serverless;
medtator;
annotation ... See more keywords
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Published in 2022 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btac776
Abstract: Abstract Summary In recent years, there has been an increasing interest in bacteriophages, which has led to growing numbers of bacteriophage genomic sequences becoming available. Consequently, there is a need for a rapid and consistent…
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Keywords:
tool;
pharokka fast;
annotation tool;
bacteriophage ... See more keywords
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Published in 2024 at "PLOS ONE"
DOI: 10.1371/journal.pone.0313126
Abstract: The utilization of artificial intelligence (AI) is expanding significantly within medical research and, to some extent, in clinical practice. Deep learning (DL) applications, which use large convolutional neural networks (CNN), hold considerable potential, especially in…
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Keywords:
dllabelsct;
model;
annotation;
study ... See more keywords
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Published in 2018 at "Studies in health technology and informatics"
DOI: 10.3233/978-1-61499-921-8-210
Abstract: The aim of this work is to develop and validate an automatic annotation tool for the detection and bone localization of scaphoid fractures in radiology reports. To achieve this goal, a rule-based method using a…
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Keywords:
detection;
tool support;
tool;
annotation tool ... See more keywords
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Published in 2019 at "Studies in health technology and informatics"
DOI: 10.3233/shti190344
Abstract: Patient weights can be entered incorrectly into electronic health record (EHR) systems. These weight errors can cause significant patient harm especially in pediatrics where weight-based dosing is pervasively used. Determining weight errors through manual chart…
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Keywords:
visual annotation;
annotation tool;
weight errors;
annotated weight ... See more keywords
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Published in 2022 at "Studies in health technology and informatics"
DOI: 10.3233/shti220130
Abstract: Weight entry errors can cause significant patient harm in pediatrics due to pervasive weight-based dosing practices. While computerized algorithms can assist in error detection, they have not achieved high sensitivity and specificity to be further…
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Keywords:
tool;
annotation;
visual annotation;
weight entry ... See more keywords
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3
Published in 2022 at "Healthcare Informatics Research"
DOI: 10.4258/hir.2022.28.1.89
Abstract: Objectives This study was conducted to develop a generalizable annotation tool for bilingual complex clinical text annotation, which led to the design and development of a clinical text annotation tool, ANNO. Methods We designed ANNO…
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Keywords:
annotation tool;
regular expression;
tool bilingual;
annotation ... See more keywords