MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24399
Abstract: The recent identification of noncoding variants with pathogenic effects suggests that these variations could underlie a significant number of undiagnosed cases. Several computational methods have been developed to predict the functional impact of noncoding variants,… read more here.
Keywords: annotation tools; dbmir prioritization; mirlog dbmir; prioritization functional ... See more keywords
O-087 Optimizing Carrier Screening Panels: Integrating 8989 Internal Exomes, gnomAD v4.1, and Advanced Annotation Tools for Evidence-Based, Peer-Reviewed gene panel design
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DOI: 10.1093/humrep/deaf097.087
Abstract: How can evidence-based carrier screening (CS) panels be designed using large-scale internal exome data and aggregated population genomics resources to improve accuracy and inclusivity? Integrating internal and population genomic resources enhances sensitivity, potential for greater… read more here.
Keywords: annotation tools; panel; evidence based; carrier ... See more keywords
Variations in Nomenclature of Clinical Variants between Annotation Tools.
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DOI: 10.1093/labmed/lmab074
Abstract: BACKGROUND Accurate nomenclature of variants is an essential element for genetic diagnosis and patient care. OBJECTIVE To investigate annotation differences of clinical variants between annotation tools. METHODS We analyzed 218,156 clinical variants from the Human… read more here.
Keywords: annotation tools; variations nomenclature; annotation; variants annotation ... See more keywords
MetaTron: advancing biomedical annotation empowering relation annotation and collaboration
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DOI: 10.1186/s12859-024-05730-9
Abstract: Background The constant growth of biomedical data is accompanied by the need for new methodologies to effectively and efficiently extract machine-readable knowledge for training and testing purposes. A crucial aspect in this regard is creating… read more here.
Keywords: annotation tools; relation annotation; metatron; annotation ... See more keywords
Annotation Tools in Gastrointestinal Polyp Annotation
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DOI: 10.3390/diagnostics12102324
Abstract: Capsule endoscopy (CE) is a valid alternative to conventional gastrointestinal (GI) endoscopy tools. In CE, annotation tools are crucial in developing large and annotated medical image databases for training deep neural networks (DNN). We provide… read more here.
Keywords: annotation tools; polyp annotation; gastrointestinal polyp; tools gastrointestinal ... See more keywords
Chloroplast Genome Annotation Tools: Prolegomena to the Identification of Inverted Repeats
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms231810804
Abstract: The development of next-generation sequencing technology and the increasing amount of sequencing data have brought the bioinformatic tools used in genome assembly into focus. The final step of the process is genome annotation, which works… read more here.
Keywords: annotation tools; inverted repeats; chloroplast sequences; annotation ... See more keywords