#variant interpretation
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Is It Necessary to Reanalyze Genetic Test Results for Rare Diseases?2024. 06. 13
Why is Reanalysis of Genetic Data Important?2024. 03. 09
Natural Language Processing and Text Mining for Interpretation of Genetic Variants2023. 01. 11
Global rare disease diagnosis cooperation using ClinVar2022. 09. 21
Validation of poor-quality pathogenic variants from next-generation sequencing results2022. 07. 01
Getting started with the rare disease database: OMIM2022. 03. 29