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