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Methods For Extending Biomedical Reference Ontologies And Interface Terminologies For Ehrr Text Annotation, Vipina Kuttichi Keloth May 2021

Methods For Extending Biomedical Reference Ontologies And Interface Terminologies For Ehrr Text Annotation, Vipina Kuttichi Keloth

Dissertations

Biomedical ontologies and terminologies are a cornerstone in various electronic health record systems (EHRs) for encoding information related to diseases, diagnoses, treatments, etc. Ontologies in general represent entities (concepts) and events along with all interdependent properties and relationships in an efficient way to facilitate easy access, retrieval and sharing. With the landscape of medicine rapidly changing, biomedical ontologies and terminologies need to rapidly evolve to support interoperability, medical coding, record keeping, and healthcare activities in general, and to facilitate interdisciplinary research. Extending ontologies by identifying new and missing concepts plays a vital role in the maintenance of ontologies to keep …


Polya: A Tool For Adjudicating Competing Annotations Of Biological Sequences, Kaitlin Carey Jan 2021

Polya: A Tool For Adjudicating Competing Annotations Of Biological Sequences, Kaitlin Carey

Graduate Student Theses, Dissertations, & Professional Papers

Annotation of a biological sequence is usually performed by aligning that sequence to a database of known sequence elements. When that database contains elements that are highly similar to each other, the proper annotation may be ambiguous, because several entries in the database produce high-scoring alignments. Typical annotation methods work by assigning a label based on the candidate annotation with the highest alignment score; this can overstate annotation certainty, mislabel boundaries, and fails to identify large scale rearrangements or insertions within the annotated sequence. Here, I present a new software tool, PolyA, that adjudicates between competing alignment-based annotations by computing …