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   Articles with "annotation tools" as a keyword



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MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants

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recommendations! 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
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Variations in Nomenclature of Clinical Variants between Annotation Tools.

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recommendations! Published in 2021 at "Laboratory medicine"

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
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Annotation Tools in Gastrointestinal Polyp Annotation

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recommendations! Published in 2022 at "Diagnostics"

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
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Chloroplast Genome Annotation Tools: Prolegomena to the Identification of Inverted Repeats

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recommendations! 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